Research Articles

Promising New BVVL Treatment

We are pleased to share the work done by Dr. Bosch and colleagues in the Netherlands in the Division of Metabolic Disorders at University Hospital of Amsterdam (See initial article and contact information below). Around the same time that the first gene was documented (2010), Dr. Bosch's team was working on high dose riboflavin (Vitamin B2) supplementation in patients who had RTD and a similar disease, Fazio Londe.

In October 2012, Dr. Bosch's team published a review on the literature of RTD and Fazio Londe syndromes, with recommendations for treatment. The following link has open access with a provisional PDF; however, you may email us directly for a copy from our library: http://www.ojrd.com/content/7/1/83/abstract

Please visit our Research Highlights page for ongoing reports of riboflavin supplementation in the literature.

Ongoing Research

When this web site was founded in 2008, a large collaborative effort among physicians and researchers in the United Kingdom and the United States were studying tissue from at least ten families affected by the disease in order to learn which genetic mechanism(s) is responsible for RTD. March 4, 2010, brought forth the first publication of a RTD genetic finding, on C20orf54 (See below). Since that time, other genes have been named in the RTD and FL disease processes. However, more samples from affected families are needed in order to expand this research, as well as ongoing research towards a cure.

Contact Dr. Henry Houlden of the MRC centre for Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London for more information: h.houlden@ucl.ac.uk

2024

Nanoencapsulation of vitamin B2 using chitosan-modified poly(lactic-co-glycolic acid) nanoparticles: Synthesis, characterization, and in vitro studies on simulated gastrointestinal stability and delivery. Sathiensathaporn S, Solé-Porta A, Baowan D, Pissuwan D, Wongtrakoongate P, Roig A, Katewongsa KP. J Food Sci. 2024 Dec 28. doi: 10.1111/1750-3841.17631. Online ahead of print. PMID: 39731719

Child Neurology: Five-Year Update on Siblings With Riboflavin Transporter Deficiency: Stable Visual and Neurologic Status With Continued Riboflavin Therapy. O'Brien MA, Culican SM, Shinawi MS, Zaidman CM. Neurology. 2024 Dec 10;103(11):e209969. doi: 10.1212/WNL.0000000000209969. Epub 2024 Nov 15. PMID: 39546739

Riboflavin kinase binds and activates inducible nitric oxide synthase to reprogram macrophage polarization. Shan X, Ji Z, Wang B, Zhang Y, Dong H, Jing W, Zhou Y, Hu P, Cui Y, Li Z, Yu S, Zhou J, Wang T, Shen L, Liu Y, Yu Q. Redox Biol. 2024 Oct 30;78:103413. doi: 10.1016/j.redox.2024.103413. Online ahead of print. PMID: 39536592

Riboflavin transporter deficiency, the search for the undiagnosed: a retrospective data mining study. Jaeger B, Hoytema van Konijnenburg E, Groenveld MA, Langeveld M, Wolf NI, Bosch AM. Orphanet J Rare Dis. 2024 Nov 1;19(1):410. doi: 10.1186/s13023-024-03428-y. PMID: 39487500

Transcriptome analysis of tilapia streptococcus agalactiae in response to baicalin. Huang QQ, Liu SL, Huang JH, Wang F, Zhao ZC, Deng HW, Lin C, Guo WL, Zhong ZH, Li JL, Zhang DD, Wang SF, Zhou YC. Genes Genomics. 2024 Oct 22. doi: 10.1007/s13258-024-01541-7. Online ahead of print. PMID: 39436527

Riboflavin supplementation in children with riboflavin transporter deficiency type 2 does not stop disease progression based on long-term follow-up. Bertini E, Massey K. Dev Med Child Neurol. 2024 Oct 1. doi: 10.1111/dmcn.16106. Online ahead of print. PMID: 39353082

Management Targeted Genetic Evaluation of an Idiopathic Neuropathy Cohort Through ATTRv Amyloidosis Screening. Fisher KA, Diaz S, Gelblum J, Brock C, Suresh N, Towne M. HCA Healthc J Med. 2024 Aug 1;5(4):405-413. doi: 10.36518/2689-0216.1557. eCollection 2024. PMID: 39290488

Abid Sadiq affiliated with Kilimanjaro Christian Medical Centre in Moshi Tanzania https://jicna.org/index.php/journal/article/view/249

Long-term outcomes in children with riboflavin transporter deficiency and surveillance recommendations. Fennessy JR, Cornett KMD, Donlevy GA, Mckay MJ, Burns J, Menezes MP. Dev Med Child Neurol. 2024 Sep 9. doi: 10.1111/dmcn.16083. Online ahead of print. PMID: 39252496

Riboflavin transporter deficiency in young adults unmasked by dietary changes. Jaeger B, Langeveld M, Brunkhorst R, Distelmaier F, Pop A, Wolf NI, Bosch AM. JIMD Rep. 2024 Jun 27;65(4):233-238. doi: 10.1002/jmd2.12427. eCollection 2024 Jul. PMID: 38974615

Modeling riboflavin transporter deficiency type 2: from iPSC-derived motoneurons to iPSC-derived astrocytes. Magliocca V, Lanciotti A, Ambrosini E, Travaglini L, D'Ezio V, D'Oria V, Petrini S, Catteruccia M, Massey K, Tartaglia M, Bertini E, Persichini T, Compagnucci C. Front Cell Neurosci. 2024 Jul 24;18:1440555. doi: 10.3389/fncel.2024.1440555. eCollection 2024. PMID: 39113759

Lingual Fasciculation as a Point of Call for the Diagnosis of Amyotrophic Lateral Sclerosis: A Literature Review. Galeazzi L, Holzman J, Porporatti A, Rochefort J. Cureus. 2024 Jul 9;16(7):e64153. doi: 10.7759/cureus.64153. eCollection 2024 Jul. PMID: 39119436

Atypical presentations in an RTD patient and report of novel SLC52A3 and SLC52A2 mutations. Sabeghi D, InanlooRahatloo K, Mirzadeh HS, Khani M, Shamshiri H, Taghavi T, Alavi A, Boostani R, Tonekaboni SH, Akhondian J, Ebrahimi M, Salehi N, Nafissi S, Elahi E. Acta Neurol Belg. 2024 Jul 4. doi: 10.1007/s13760-024-02598-7. Online ahead of print. PMID: 38965176

Molecular genetic analysis of candidate genes for glutaric aciduria type II in a cohort of patients from Queensland, Australia. Demetriou K, Nisbet J, Coman D, Ewing AD, Phillips L, Smith S, Lipke M, Inwood A, Spicer J, Atthow C, Wilgen U, Robertson T, McWhinney A, Swenson R, Espley B, Snowdon B, McGill JJ, Summers KM. Mol Genet Metab. 2024 Jun 17;142(4):108516. doi: 10.1016/j.ymgme.2024.108516. Online ahead of print. PMID: 38941880

Development of a functional outcome measure for riboflavin transporter deficiency. Fennessy JR, Donlevy GA, McKay MJ, Burns J, Cornett KMD, Menezes MP. J Peripher Nerv Syst. 2024 Jun;29(2):185-192. doi: 10.1111/jns.12619. Epub 2024 Mar 6. PMID: 38445790

Diffusion-Weighted Magnetic Resonance Imaging (dMRI) and Cochlear Implant Outcomes in Axonal Auditory Neuropathy: A Case Report. Rance G, Wills R, Kornberg A, Zanin J. J Clin Med. 2024 May 24;13(11):3072. doi: 10.3390/jcm13113072. PMID: 38892782

The various forms of hereditary motor neuron disorders and their historical descriptions. Mathis S, Beauvais D, Duval F, Solé G, Le Masson G. J Neurol. 2024 May 30. doi: 10.1007/s00415-024-12462-6. Online ahead of print. PMID: 38816479 Review.

Case Report: A rare treatable metabolic syndrome (Brown-Vialetto-Van Laere syndrome) masquerading as chronic inflammatory demyelinating polyneuropathy from Saudi Arabia. Kentab AY, Alsalloum Y, Labani M, Hudairi A, Hamad MH, Jamjoom DZ, Alwadei AH, Alhammad RM, Bashiri FA. Front Pediatr. 2024 Apr 30;12:1377515. doi: 10.3389/fped.2024.1377515. eCollection 2024. PMID: 38745833

Distal hereditary motor neuropathies. Tazir M, Nouioua S. Rev Neurol (Paris). 2024 May 2:S0035-3787(23)01111-6. doi: 10.1016/j.neurol.2023.09.005. Online ahead of print. PMID: 38702287 Review.

A riboflavin transporter deficiency presenting as pure red cell aplasia: a pediatric case report. Cheng J, Yao J, Zhao S, Fu L, Zhang L, Jiang J. Front Pediatr. 2024 Apr 17;12:1391245. doi: 10.3389/fped.2024.1391245. eCollection 2024. PMID: 38694724

Brown-Vialetto-Van Laere syndrome. Imannezhad S, Ghayoor Karimiani E, Sezavar M, Khademi GR, Naseri M, Ashrafzadeh F. Iran J Child Neurol. 2024 Spring;18(2):141-146. doi: 10.22037/ijcn.v18i2.37314. Epub 2024 Mar 12.PMID: 38617395

Narayanan RK, Perez-Siles G, Marzec KA, Boyling A, Neumann B, Menezes MP, Kennerson ML. C. elegans model of riboflavin transporter deficiency (RTD) disorder reveals deficits in synaptic transmission and movement. Genes Dis. 2023 Aug 8;11(4):101071 https://pubmed.ncbi.nlm.nih.gov/38515939/

Tranel ES, McGowan B, Drackley A, Epstein LG, Rao VK, Kuntz NL, Schwaede AN. A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3gene. Mol Genet Metab Rep. 2024 Jan 15;38:101051. https://pubmed.ncbi.nlm.nih.gov/38469093/

Fennessy JR, Donlevy GA, McKay MJ, Burns J, Cornett KMD, Menezes MP. Development of a functional outcome measure for riboflavin transporter deficiency. J Peripher Nerv Syst. 2024 Mar 6. https://pubmed.ncbi.nlm.nih.gov/38445790/

Nair AV, Kandagaddala M, Sivadasan A, Prabhakar AT, Nair S, Mathew V, Aaron S, Alexander M. "De Novo" Hypercapnic Respiratory Failure Unmasking Neuromuscular Disorders: Experiences From a Tertiary Care Center and Review of Literature. J Clin Neuromuscul Dis. 2024 Mar 1;25(3):122-131. https://pubmed.ncbi.nlm.nih.gov/38441928/

Vishak MS, Haritha GH, Kalaiarasi R. Sudden Onset Auditory Neuropathy Spectrum Disorder: A Rare Case Report of Brown Vialetto Van Laere Syndrome. Indian J Otolaryngol Head Neck Surg. 2024 Feb;76(1):1187-1190. https://pubmed.ncbi.nlm.nih.gov/38440665/

[No authors listed] Correction to "Identification of a mutation in TNRC18 in a patient with clinical features of Fazio-Londe disease". Clin Case Rep. 2024 Feb 20;12(2):e8545. https://pubmed.ncbi.nlm.nih.gov/38385054/

Marioli C, Muzzi M, Colasuonno F, Fiorucci C, Cicolani N, Petrini S, Bertini E, Tartaglia M, Compagnucci C, Moreno S. Caspase-dependent apoptosis in Ribloflavin transporter deficiency iPSCs and derived motor neurons. Cell Death Discov. 2024 Jan 26;10(1):54. https://pubmed.ncbi.nlm.nih.gov/38278809/

Khani M, Shamshiri H, Nafissi S, Salehi N, Moazzeni H, Taheri H, Elahi E. Identification of a mutation in TNRC18 in a patient with clinical features of Fazio-Londe disease. Clin Case Rep. 2024 Jan 4;12(1):e8394. doi: 10.1002/ccr3.8394. https://pubmed.ncbi.nlm.nih.gov/38188848/

2023

Piecuch AK, Skarżyński PH, Skarżyński H. A Case Report of Riboflavin Treatment and Cochlear Implants in a 4-Year-Old Girl with Progressive Hearing Loss and Delayed Speech Development: Brown-Vialetto-Van Laere Syndrome. Am J Case Rep. 2023 Oct 3;24:e940439. https://pubmed.ncbi.nlm.nih.gov/37786244/

Fennessy JR, Cornett KMD, Burns J, Menezes MP. Benefit of high-dose oral riboflavin therapy in Riboflavin Transporter Deficiency. J Peripher Nerv Syst. 2023 Aug 3. https://pubmed.ncbi.nlm.nih.gov/37537696/

Grünert SC, Ziagaki A, Heinen A, Schumann A, Tucci S, Spiekerkoetter U, Schmidts M.
Riboflavin 1 Transporter Deficiency: Novel SLC52A1 Variants and Expansion of the Phenotypic Spectrum. Genes (Basel). 2023 Jul 7;14(7):1408. https://pubmed.ncbi.nlm.nih.gov/37510312/

Chen Y, Zhao J, McLinden AP, Luo M, Cao K, Liu J. Severe erythroid hypoplasia and erythroblast vacuolization in a male with Brown-Vialetto-Van Laere syndrome 2 misdiagnosed as Diamond Blackfan anemia. Pediatr Blood Cancer. 2023 May 2. https://pubmed.ncbi.nlm.nih.gov/37132082/

Elks N, Wilmshurst JM, Raga SV. Normal Outcome With Prenatal Intervention for Riboflavin Transporter Defect. Pediatr Neurol. 2023 Apr 7;144:16-18. https://pubmed.ncbi.nlm.nih.gov/37116404/

Alasqah MI, Aldriweesh B, Alshareef WA, Alhashem MH, Alammar A. Role of Otolaryngologists in the Treatment of Patients With Riboflavin Transporter Deficiency: A Case Report. Cureus. 2023 Mar 17;15(3):e36312. https://pubmed.ncbi.nlm.nih.gov/37077589/

2022

Wang T, Wang J, Zhang D, Chen L, Liu M, Zhang X, Schmidt W, Zhang WH. Protein kinase MtCIPK12 modulates iron reduction in Medicago truncatula by regulating riboflavin biosynthesis. Plant Cell Environ. 2022 Dec 28. doi: 10.1111/pce.14527. https://pubmed.ncbi.nlm.nih.gov/36578264/

Zhang L, Thyagarajan D. Two Rare Cases of Long Surviving Riboflavin Transporter Deficiency with Co-Existing Adenosine Monophosphate Deaminase (AMP) Deficiency. Brain Sci. 2022 Nov 23;12(12):1605. doi: 10.3390/brainsci12121605. https://pubmed.ncbi.nlm.nih.gov/36552065/

Mariem OB, Saporiti S, Guerrini U, Laurenzi T, Palazzolo L, Indiveri C, Barile M, De Fabiani E, Eberini I. In silico investigation on structure-function relationship of members belonging to the human SLC52 transporter family. Proteins. 2022 Dec 13. doi: 10.1002/prot.26453. https://pubmed.ncbi.nlm.nih.gov/36511838/

Tolomeo M, Chimienti G, Lanza M, Barbaro R, Nisco A, Latronico T, Leone P, Petrosillo G, Liuzzi GM, Ryder B, Inbar-Feigenberg M, Colella M, Lezza AMS, Olsen RKJ, Barile M. Retrograde response to mitochondrial dysfunctions associated to LOF variations in FLAD1 exon 2: unraveling the importance of RFVT2. Free Radic Res. 2022 Dec 8:1-15. doi: 10.1080/10715762.2022.2146501. https://pubmed.ncbi.nlm.nih.gov/36480241/

Zhao S, Che F, Yang L, Zheng Y, Wang D, Yang Y, Wang Y. First report of paternal uniparental disomy of chromosome 8 with SLC52A2 mutation in Brown-vialetto-van laere syndrome type 2 and an analysis of genotype-phenotype correlations. Front Genet. 2022 Sep 15;13:977914. doi: 10.3389/fgene.2022.977914. eCollection 2022. https://pubmed.ncbi.nlm.nih.gov/36186484/

Rabbani B, Bakhshandeh MK, Navaeifar MR, Abbaskhanian A, Soveizi M, Geravandpoor S, Mahdieh N.
Corrigendum to "Brown-Vialetto-Van Laere syndrome and Fazio-Londe syndrome: A novel mutation and in silico analyses" [J. Clin. Neurosci. 72 (2020) 342-349]. J Clin Neurosci. 2022 Aug 10:S0967-5868(22)00318-6. https://pubmed.ncbi.nlm.nih.gov/35963752/

Bulas S, Bedoukian EC, O'Neil EC, Krantz ID, Yum SW, Liu GT, Aleman TS. Ocular Biomarkers of Riboflavin Transporter Deficiency. J Neuroophthalmol. 2022 Aug 2. doi. https://pubmed.ncbi.nlm.nih.gov/35921603/

Tummolo A, Leone P, Tolomeo M, Solito R, Mattiuzzo M, Lepri FR, Lorè T, Cardinali R, De Giovanni D, Simonetti S, Barile M. Combined isobutyryl-CoA and multiple acyl-CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis. JIMD Rep. 2022 May 7;63(4):276-291. https://pubmed.ncbi.nlm.nih.gov/35822092/

Colasuonno F, Marioli C, Tartaglia M, Bertini E, Compagnucci C, Moreno S. New Insights into the Neurodegeneration Mechanisms Underlying Riboflavin Transporter Deficiency (RTD): Involvement of Energy Dysmetabolism and Cytoskeletal Derangement. Biomedicines. 2022 Jun 6;10(6):1329. https://pubmed.ncbi.nlm.nih.gov/35740351/

Sanchez JA, Traub R, Trau SP, Howard JF Jr. Electrodiagnostic Findings in Riboflavin Transporter Deficiency Type 2. J Clin Neuromuscul Dis. 2022 Jun 1;23(4):205-209. https://pubmed.ncbi.nlm.nih.gov/35608644/

Naami N, Borkhardt A, Yoshimi A, Grinstein L, Escherich G. 13-month-old girl with hyporegenerative macrocytic anemia due to Brown-Vialetto-Van Laere syndrome 2. Am J Hematol. 2022 Apr 20. https://pubmed.ncbi.nlm.nih.gov/35441393/

do Amaral MSA, Massuda ET, Mitikami Fenólio GH, Barbosa Reis ACM, Angelo Hyppolito M. Cochlear Implant in Brown-Vialetto-Van Laere Syndrome Patient. J Int Adv Otol. 2022 Mar;18(2):192-195. https://pubmed.ncbi.nlm.nih.gov/35418370/

2021

Mir A, Almudhry M, Alghamdi F, Albaradie R, Ibrahim M, Aldurayhim F, Alhedaithy A, Alamr M, Bawazir M, Mohammad S, Abdelhay S, Bashir S, Housawi Y. SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population. Hum Genet. 2021 Nov 19. https://pubmed.ncbi.nlm.nih.gov/34797406/

Al Shamsi B, Al Murshedi F, Al Habsi A, Al-Thihli K. Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency. Eur J Hum Genet. 2021 Nov 12. https://pubmed.ncbi.nlm.nih.gov/34764427/

Carreau C, Lenglet T, Mosnier I, Lahlou G, Fargeot G, Weiss N, Demeret S, Salachas F, Veauville-Merllié A, Acquaviva C, Nadjar Y. A juvenile ALS-like phenotype dramatically improved after high-dose riboflavin treatment. Ann Clin Transl Neurol. 2020 Feb;7(2):250-253. https://pubmed.ncbi.nlm.nih.gov/32022482/

Liu Z, Peng Q, Li J, Rao C, Lu X. BVVLS2 overlooked for 3 years in a pediatric patient caused by novel compound heterozygous mutations in SLC52A2 gene. Clin Chim Acta. 2021 Oct 28;523:402-406. https://pubmed.ncbi.nlm.nih.gov/34737166/

Ma J, Ni K, Cai W, Li B, Qian Q, Sun D. Generation of an induced pluripotent stem cell line ATCi001-A from a three-year-old Chinese girl with Brown-Vialetto-Van Laere syndrome-2. Stem Cell Res. 2021 Oct 30;57:102589. https://pubmed.ncbi.nlm.nih.gov/34736036/

Jin C, Yonezawa A. Recent advances in riboflavin transporter RFVT and its genetic disease. Pharmacol Ther. 2021 Oct 15:108023. https://pubmed.ncbi.nlm.nih.gov/34662687/

Ding X, Yan D, Zhang X, Liu B, Zhu G. Metabolomics Analysis of the Effect of GAT-2 Deficiency on Th1 Cells in Mice. J Proteome Res. 2021 Oct 14. https://pubmed.ncbi.nlm.nih.gov/34647753/

Omar R, Rajput K, Sirimanna T, Rajput S, Pagarkar W. The audiovestibular profile of Brown-Vialetto-Van Laere syndrome. J Laryngol Otol. 2021 Sep 9:1-23. https://pubmed.ncbi.nlm.nih.gov/34496984/

Console L, Tolomeo M, Cosco J, Massey K, Barile M, Indiveri C. Impact of natural mutations on the riboflavin transporter 2 and their relevance to human riboflavin transporter deficiency 2. IUBMB Life. 2021 Aug 24. https://pubmed.ncbi.nlm.nih.gov/34428344/

Frederick AL, Yang JH, Schneider S, Quade A, Guidugli L, Wigby K, Cameron M. To Be or No B2: A Rare Cause of Stridor and Weakness in a Toddler. Child Neurol Open. 2021 Aug 5. https://pubmed.ncbi.nlm.nih.gov/34395718/

Carey G, Kuchcinski G, Gauvrit F, Defebvre L, Nguyen S, Dhaenens CM, Dessein AF, Vianey-Saban C, Acquaviva C, Tard C. Three cases of adult-onset Brown-Vialetto-Van Laere syndrome: Novel variants in SLC52A3 gene and MRI abnormalities. Neuromuscul Disord. 2021 Jun 26. https://pubmed.ncbi.nlm.nih.gov/34384672/

Muramatsu MK, Zhou J, Fitzgerald BL, Deka RK, Belisle JT, Norgard MV. An rfuABCD-like operon and its relationship to riboflavin utilization and mammalian. Infect Immun. 2021 Jul 26:IAI0030721. https://pubmed.ncbi.nlm.nih.gov/34310888/

Colasuonno F, Niceforo A, Marioli C, Fracassi A, Stregapede F, Massey K, Tartaglia M, Bertini E, Compagnucci C, Moreno S. Mitochondrial and Peroxisomal Alterations Contribute to Energy Dysmetabolism in Riboflavin Transporter Deficiency. Oxid Med Cell Longev. 2020 Aug 12;2020

Gedik Soyuyuce O, Ayanoglu Aksoy E, Yapici Z.
A case report of sudden-onset auditory neuropathy spectrum disorder associated with Brown-Vialetto-Van Laere syndrome (riboflavin transporter deficiency). Int J Audiol. 2021 May 13:1-7.

Yılmaz BŞ, Ceylaner S, Mungan NÖ.
Brown Vialetto Van Laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders. Turk J Pediatr. 2021;63(2):314-318.

Kuang W, Zhang J, Lan Z, Deepak RNVK, Liu C, Ma Z, Cheng L, Zhao X, Meng X, Wang W, Wang X, Xu L, Jiao Y, Luo Q, Meng Z, Kee K, Liu X, Deng H, Li W, Fan H, Chen L. SLC22A14 is a mitochondrial riboflavin transporter required for sperm oxidative phosphorylation and male fertility.
Cell Rep. 2021 Apr 20;35(3):109025. https://pubmed.ncbi.nlm.nih.gov/33882315/

Plantone D, Pardini M, Rinaldi G. Riboflavin in Neurological Diseases: A Narrative Review. Clin Drug Investig. 2021 Apr 22. https://pubmed.ncbi.nlm.nih.gov/33886098/

Khani M, Shamshiri H, Moazzeni H, Taheri H, Ahmadieh H, Alavi A, Farboodi N, Nafissi S, Elahi E., A case of adult onset Sandhoff disease that mimics Brown-Vialetto-Van Laere syndrome. Neuromuscul Disord. 2021 Mar 8, https://pubmed.ncbi.nlm.nih.gov/33824075/

Console L, Tolomeo M, Indiveri C. Functional Study of the Human Riboflavin Transporter 2 Using Proteoliposomes System. Methods Mol Biol. 202, https://pubmed.ncbi.nlm.nih.gov/33751428/

Jin C, Matsui Y, Yonezawa A, Imai S, Ogihara T, Itohara K, Nakagawa S, Nakagawa T, Matsubara K. Complete Deletion of Slc52a2 Causes Embryonic Lethality in Mice. Biol Pharm Bull. 2021;44(2):283-286. https://pubmed.ncbi.nlm.nih.gov/33518683/

Niceforo A, Marioli C, Colasuonno F, Petrini S, Massey K, Tartaglia M, Bertini E, Moreno S, Compagnucci C. Altered cytoskeletal arrangement in induced pluripotent stem cells (iPSCs) and motor neurons from patients with riboflavin transporter deficiency. Dis Model Mech. 2021 Jan 19:dmm.046391. https://pubmed.ncbi.nlm.nih.gov/33468503/

2020

Gayathri S, Gowda VK, Udhayabanu T, O'Callaghan B, Efthymiou S, Varalakshmi P, Benakappa N, Houlden H, Ashokkumar B. Brown-Vialetto-Van Laere and Fazio-Londe Syndromes: SLC52A3 mutations with puzzling phenotypes and inheritance. Eur J Neurol. 2020 Dec 15. https://pubmed.ncbi.nlm.nih.gov/33325104/

Colasuonno F, Bertini E, Tartaglia M, Compagnucci C, Moreno S. Mitochondrial Abnormalities in Induced Pluripotent Stem Cells-Derived Motor Neurons from Patients with Riboflavin Transporter Deficiency. 2020 Dec 9;9(12). https://pubmed.ncbi.nlm.nih.gov/33317017/

Mereis M, Wanders RJA, Schoonen M, Dercksen M, Smuts I, van der Westhuizen FH. Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies. Int J Biochem Cell Biol. 2020 Dec 3:105899. https://pubmed.ncbi.nlm.nih.gov/33279678/

Khani M, Shamshiri H, Taheri H, Hardy J, Bras JT, Carmona S, Moazzeni H, Alavi A, Heshmati A, Taghizadeh P, Nilipour Y, Ghazanfari T, Shahabi M, Okhovat AA, Rohani M, Valle G, Boostani R, Abdi S, Eshghi S, Nafissi S, Elahi E. BVVL/ FL: features caused by SLC52A3 mutations; WDFY4 and TNFSF13B may be novel causative genes. Neurobiol Aging. 2020 Oct 5:S0197-4580(20)30298-0. https://pubmed.ncbi.nlm.nih.gov/33189404/

Chaudhry D, Chaudhry A, Muzaffar J, Monksfield P, Bance M. Cochlear Implantation Outcomes in Post Synaptic Auditory Neuropathies: A Systematic Review and Narrative Synthesis. J Int Adv Otol. 2020 Dec;16(3). https://pubmed.ncbi.nlm.nih.gov/33136025/

Jin C, Yonezawa A, Yoshimatsu H, Imai S, Koyanagi M, Yamanishi K, Nakagawa S, Itohara K, Omura T, Nakagawa T, Nagai J, Matsubara K. Effect of riboflavin deficiency on development of the cerebral cortex in Slc52a3 knockout mice. Sci Rep. 2020 Oct 28. https://pubmed.ncbi.nlm.nih.gov/33116204/

Kranthi P, Garuda BR, Gopi S, Kumar TS. Brown-Vialetto-Van Laere syndrome: A rare case report of MND mimic. Neurol India. 2020 Sep-Oct. https://pubmed.ncbi.nlm.nih.gov/33109881/

Carreau C, Benoit C, Ahle G, Cauquil C, Roubertie A, Lenglet T, Cosgrove J, Meunier I, Veauville-Merllié A, Acquaviva-Bourdain C, Nadjar Y. Late-onset riboflavin transporter deficiency: a treatable mimic of various motor neuropathy aetiologies. J Neurol Neurosurg Psychiatry. 2020 Oct 21. https://pubmed.ncbi.nlm.nih.gov/33087424/

Marioli C, Magliocca V, Petrini S, Niceforo A, Borghi R, Petrillo S, La Rosa P, Colasuonno F, Persichini T, Piemonte F, Massey K, Tartaglia M, Moreno S, Bertini E, Compagnucci C. Antioxidant Amelioration of Riboflavin Transporter Deficiency in Motoneurons Derived from Patient-Specific Induced Pluripotent Stem Cells. Int J Mol Sci. 2020 Oct 7. https://pubmed.ncbi.nlm.nih.gov/33036493/

Pillai NR, Amin H, Gijavanekar C, Liu N, Issaq N, Broniowska KA, Bertuch AA, Sutton VR, Elsea SH, Scaglia F. Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency. Am J Med Genet A. 2020 Sep 10. https://pubmed.ncbi.nlm.nih.gov/32909658/

Colasuonno F, Niceforo A, Marioli C, Fracassi A, Stregapede F, Massey K, Tartaglia M, Bertini E, Compagnucci C, Moreno S. Mitochondrial and Peroxisomal Alterations Contribute to Energy Dysmetabolism in Riboflavin Transporter Deficiency. Oxid Med Cell Longev. 2020 Aug 12. https://pubmed.ncbi.nlm.nih.gov/32855765/

Xiao C, Astiazaran-Symonds E, Basu S, Kisling M, Scaglia F, Chapman KA, Wang Y, Vockley J, Ferreira CR. Mitochondrial energetic impairment in a patient with late-onset glutaric acidemia Type 2. Am J Med Genet A. 2020 Aug 17.https://pubmed.ncbi.nlm.nih.gov/32804429/

Balasubramaniam S, Christodoulou J, Rahman S. Disorders of riboflavin metabolism. J Inherit Metab Dis. 2019 Jul; https://pubmed.ncbi.nlm.nih.gov/30680745/

O'Callaghan B, Bosch AM, Houlden H. An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency. J Inherit Metab Dis. 2019 Jul. https://pubmed.ncbi.nlm.nih.gov/30793323/

Jennings MJ, Lochmüller A, Atalaia A, Horvath R. Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a 'treatabolome'. J Neuromuscul Dis. 2020 Jul 31. https://pubmed.ncbi.nlm.nih.gov/32773395/

Tolomeo M, Nisco A, Leone P, Barile M. Development of Novel Experimental Models to Study Flavoproteome Alterations in Human Neuromuscular Diseases: The Effect of Rf Therapy. Int J Mol Sci. 2020 Jul 26. https://pubmed.ncbi.nlm.nih.gov/32722651/

Bertsova YV, Kulik LV, Mamedov MD, Baykov AA, Bogachev AV. Flavodoxin with an air-stable flavin semiquinone in a green sulfur bacterium. Photosynth Res. 2019 Nov;142(2):127-136. https://www.ncbi.nlm.nih.gov/pubmed/31302833

Mutlu B, Topçu MT, Çiprut A. A Case with Brown-Vialetto-Van Laere Syndrome: A Sudden Onset Auditory Neuropathy Spectrum Disorder. Turk Arch Otorhinolaryngol. 2019 Dec;57(4):201-205. https://www.ncbi.nlm.nih.gov/pubmed/32128519

Rabbani B, Bakhshandeh MK, Navaeifar MR, Abbaskhanian A, Soveizi M, Geravandpoor S, Mahdieh N. Brown-Vialetto-Van Laere syndrome and Fazio-Londe syndrome: A novel mutation and in silico analyses. J Clin Neurosci. 2020 Jan 17. https://www.ncbi.nlm.nih.gov/pubmed/31959559

Dilly S, Garnier M, Sole M, Bailly R, Taib N, Berque-Bestel I. In Silico Identification of a Key Residue for Substrate Recognition of the Riboflavin Membrane Transporter RFVT3. J Chem Inf Model. 2020 Jan 10. https://www.ncbi.nlm.nih.gov/pubmed/31922414

2019

Amir F, Atzinger C, Massey K, Greinwald J, Hunter LL, Ulm E, Kettler M. The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2. J Child Neurol. 2019 Dec 23 https://www.ncbi.nlm.nih.gov/pubmed/31868069

Console L, Tolomeo M, Colella M, Barile M, Indiveri C. Reconstitution in Proteoliposomes of the Recombinant Human Riboflavin Transporter 2 (SLC52A2) Overexpressed in <i>E. coli</i>. Int J Mol Sci. 2019 Sep 8. https://www.ncbi.nlm.nih.gov/pubmed/31500345

Muru K, Reinson K, Künnapas K, Lilleväli H, Nochi Z, Mosegaard S, Pajusalu S, Olsen RKJ, Õunap K. FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening. Mol Genet Genomic Med. 2019 Aug 8. https://www.ncbi.nlm.nih.gov/pubmed/31392824

Set KK, Weber ARB, Serajee FJ, Huq AM. Clinical Reasoning: Siblings with progressive weakness, hypotonia, nystagmus, and hearing loss. Neurology. 2018 Feb 13. https://www.ncbi.nlm.nih.gov/pubmed/29440549

Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. Hereditary Ataxia Overview. GeneReviews. https://www.ncbi.nlm.nih.gov/pubmed/20301317

Shi K, Shi Z, Yan H, Wang X, Yang Y, Xiong H, Gu Q, Wu Y, Jiang Y, Wang J. A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin. BMC Med Genet. 2019 May 7. https://www.ncbi.nlm.nih.gov/pubmed/31064337

Yamada K, Ito M, Kobayashi H, Hasegawa Y, Fukuda S, Yamaguchi S, Taketani T. Flavin adenine dinucleotide synthase deficiency due to FLAD1 mutation presenting as multiple acyl-CoA dehydrogenation deficiency-like disease: A case report. Brain Dev. 2019 Apr 11. https://www.ncbi.nlm.nih.gov/pubmed/30982706

Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, Ardissone A, Lombès A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, de Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, de Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne MC, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Häberle J, Vockley J, Prokisch H, Wortmann S. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? Orphanet J Rare Dis. 2018 Jul 19. https://www.ncbi.nlm.nih.gov/pubmed/30025539

Garg M, Kulkarni SD, Hegde AU, Shah KN. Riboflavin Treatment in Genetically Proven Brown-Vialetto-Van Laere Syndrome. J Pediatr Neurosci. 2018 Oct-Dec. https://www.ncbi.nlm.nih.gov/pubmed/30937093

O'Callaghan B, Bosch AM, Houlden H. An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency. J Inherit Metab Dis. 2019 Jan 12. https://www.ncbi.nlm.nih.gov/pubmed/30793323

Balasubramaniam S, Christodoulou J, Rahman S. Disorders of Riboflavin Metabolism. J Inherit Metab Dis. 2019 Jan 24. https://www.ncbi.nlm.nih.gov/pubmed/30680745

2018

Berges M, Michel AM, Lassek C, Nuss AM, Beckstette M, Dersch P, Riedel K, Sievers S, Becher D, Otto A, Maaß S, Rohde M, Eckweiler D, Borrero-de Acuña JM, Jahn M, Neumann-Schaal M, Jahn D. Iron Regulation in <i>Clostridioides difficile</i>. Front Microbiol. 2018 Dec 24. https://www.ncbi.nlm.nih.gov/pubmed/30619231

Khani M, Alavi A, Shamshiri H, Zamani B, Hassanpour H, Kazemi MH, Nafissi S, Elahi E. Mutation screening of SLC52A3, C19orf12, and TARDBP in Iranian ALS patients. Neurobiol Aging. 2018 Nov 16. https://www.ncbi.nlm.nih.gov/pubmed/30553531

Kelley RA, Al-Ubaidi MR, Sinha T, Genc AM, Makia MS, Ikelle L, Naash MI. Ablation of the riboflavin-binding protein retbindin reduces flavin levels and leads to progressive and dose-dependent degeneration of rods and cones. J Biol Chem. 2017 Dec 22. https://www.ncbi.nlm.nih.gov/pubmed/29079576

Mandarakas MR, Menezes MP, Rose KJ, Shy R, Eichinger K, Foscan M, Estilow T, Kennedy R, Herbert K, Bray P, Refshauge K, Ryan MM, Yiu EM, Farrar M, Sampaio H, Moroni I, Pagliano E, Pareyson D, Yum SW, Herrmann DN, Acsadi G, Shy ME, Burns J, Sanmaneechai O. Development and validation of the Charcot-Marie-Tooth Disease Infant Scale. Brain. 2018 Nov 22. https://www.ncbi.nlm.nih.gov/pubmed/30476010

Bamaga AK, Maamari RN, Culican SM, Shinawi M, Golumbek PT. Child Neurology: Brown-Vialetto-Van Laere syndrome: Dramatic visual recovery after delayed riboflavin therapy. Neurology. 2018 Nov 13. https://www.ncbi.nlm.nih.gov/pubmed/30420458

Dembic M, Andersen HS, Bastin J, Doktor TK, Corydon TJ, Sass JO, Costa AL, Djouadi F, Andresen BS. Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease. Mol Genet Metab. 2018 Oct 22. https://www.ncbi.nlm.nih.gov/pubmed/30446350

Fan J, Fogel BL. Successful treatment of a genetic childhood ataxia due to riboflavin transporter deficiency. Cerebellum Ataxias. 2018 Oct 20. https://www.ncbi.nlm.nih.gov/pubmed/30377535

Gorcenco S, Vaz FM, Tracewska-Siemiatkowska A, Tranebjærg L, Cremers FPM, Ygland E, Kicsi J, Rendtorff ND, Möller C, Kjellström U, Andréasson S, Puschmann A. Oral therapy for riboflavin transporter deficiency - What is regimen of choice? Parkinsonism Relat Disord. 2018 Oct 15. https://www.ncbi.nlm.nih.gov/pubmed/30343981

Zhang H, Kiuchi T, Hirayama C, Banno Y, Katsuma S, Shimada T. A reexamination on the deficiency of riboflavin accumulation in Malpighian tubules in larval translucent mutants of the silkworm, Bombyx mori. Genetica. 2018 Aug 9. https://www.ncbi.nlm.nih.gov/pubmed/30094710

Forman EB, Foley AR, King MD. Dramatic Improvement of a Rare Syndrome WithHigh Dose Riboflavin Treatment. Pediatr Neurol. 2018 Jun 1. https://www.ncbi.nlm.nih.gov/pubmed/30072240

Woodcock IR, Menezes MP, Coleman L, Yaplito-Lee J, Peters H, White SM, Stapleton R, Phelan DG, Chong B, Lunke S, Stark Z, Pitt J, Ryan MM, Robertson C, Yiu EM. Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome. Semin Pediatr Neurol. 2018 Jul https://www.ncbi.nlm.nih.gov/pubmed/29961509

Bodensteiner JB. Editorial Comment: Brown-Vialetto-Van Laere and the Advances in Molecular Medicine. Semin Pediatr Neurol. 2018 Jul https://www.ncbi.nlm.nih.gov/pubmed/29961507

Chaya S, Zampoli M, Gray D, Booth J, Riordan G, Ndondo A, Fieggen K, Rusch J, van der Watt G, Pillay K, van der Westhuizen F, Menezes M, Wilmshurst J. The First Case of Riboflavin Transporter Deficiency in sub-Saharan Africa. Semin Pediatr Neurol. 2018 Jul https://www.ncbi.nlm.nih.gov/pubmed/29961494

Abbas Q, Jafri SK, Ishaque S, Rahman AJ. Brown-Vialetto-Van Laere syndrome: a novel diagnosis to a common presentation. BMJ Case Rep. 2018 Jun 27 https://www.ncbi.nlm.nih.gov/pubmed/29950502

Lefèvre F, Fourmeau J, Pottier M, Baijot A, Cornet T, Abadía J, Álvarez-Fernández A, Boutry M. The Nicotiana tabacum ABC transporter NtPDR3 secretes O-methylated coumarins in response to iron deficiency. J Exp Bot. 2018 Jun 8 https://www.ncbi.nlm.nih.gov/pubmed/29893871

Long L, He JZ, Chen Y, Xu XE, Liao LD, Xie YM, Li EM, Xu LY. Riboflavin Depletion Promotes Tumorigenesis in HEK293T Cells by Sustaining Cell Proliferation and Regulating Cell Cycle-Related Gene Transcription. J Nutr. 2018 May 7. https://www.ncbi.nlm.nih.gov/pubmed/29741716

2017

Gowda VK, Udhayabanu T, Varalakshmi P, Srinivasan VM, Ashokkumar B. Fazio-Londe syndrome in siblings from India with different phenotypes. Brain Dev. 2018 Feb 28. https://www.ncbi.nlm.nih.gov/pubmed/29501408

Li SS, Xu YW, Wu JY, Tan HZ, Wu ZY, Xue YJ, Zhang JJ, Li EM, Xu LY. Plasma Riboflavin Level is Associated with Risk, Relapse, and Survival of Esophageal Squamous Cell Carcinoma. Nutr Cancer. 2017 Jan https://www.ncbi.nlm.nih.gov/pubmed/27898225

Camargos S, Guerreiro R, Bras J, Mageste LS. Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family. Neurol Genet. 2018 Jan 24 https://www.ncbi.nlm.nih.gov/pubmed/29473049

Zhang H, Kiuchi T, Hirayama C, Katsuma S, Shimada T. Bombyx ortholog of the Drosophila eye color gene brown controls riboflavin transport in Malpighian tubules. Insect Biochem Mol Biol. 2017 Nov 27. https://www.ncbi.nlm.nih.gov/pubmed/29191464

Nimmo GAM, Ejaz R, Cordeiro D, Kannu P, Mercimek-Andrews S. Riboflavin transporter deficiency mimicking mitochondrial myopathy caused by complex II deficiency. Am J Med Genet A. 2017 Nov 30. https://www.ncbi.nlm.nih.gov/pubmed/29193829

Cornett K, Menezes MP, Bray P, Halaki M, Burns J. Established and novel measures of upper limb impairment in children with Charcot-Marie-Tooth disease type 1A and Riboflavin Transporter Deficiency type 2. Peripher Nerv Syst. 2017 Nov 23 https://www.ncbi.nlm.nih.gov/pubmed/29168276

Mosegaard S, Bruun GH, Flyvbjerg KF, Bliksrud YT, Gregersen N, Dembic M, Annexstad E, Tangeraas T, Olsen RKJ, Andresen BS. An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Mol Genet Metab. 2017 Nov 2 https://www.ncbi.nlm.nih.gov/pubmed/29122468

Manole A, Jaunmuktane Z, Hargreaves I, Ludtmann MHR, Salpietro V, Bello OD, Pope S, Pandraud A, Horga A, Scalco RS, Li A, Ashokkumar B, Lourenço CM, Heales S, Horvath R, Chinnery PF, Toro C, Singleton AB, Jacques TS, Abramov AY, Muntoni F, Hanna MG, Reilly MM, Revesz T, Kullmann DM, Jepson JEC, Houlden H. Clinical, pathological and functional characterization of riboflavin-responsive neuropathy. Brain. 2017 Sep 26 https://www.ncbi.nlm.nih.gov/pubmed/29053833

Thulasi V, Veerapandiyan A, Pletcher BA, Tong CM, Ming X.
A Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in SLC52A3 Gene: Clinical Course and Response to Riboflavin. Child Neurol Open. 2017 Aug 22 https://www.ncbi.nlm.nih.gov/pubmed/28856173

Udhayabanu T, Manole A, Rajeshwari M, Varalakshmi P, Houlden H, Ashokkumar B. Riboflavin Responsive Mitochondrial Dysfunction in Neurodegenerative Diseases. J Clin Med. 2017 May 5 https://www.ncbi.nlm.nih.gov/pubmed/28475111

Rizzo F, Ramirez A, Compagnucci C, Salani S, Melzi V, Bordoni A, Fortunato F, Niceforo A, Bresolin N, Comi GP, Bertini E, Nizzardo M, Corti S. Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown-Vialetto disease that is partially rescued by riboflavin. Sci Rep. 2017 Apr 6 https://www.ncbi.nlm.nih.gov/pubmed/28382968

Allison T, Roncero I, Forsyth R, Coffman K, Le Pichon JB. Brown-Vialetto-Van Laere Syndrome as a Mimic of Neuroimmune Disorders. J Child Neurol. 2017 Jan https://www.ncbi.nlm.nih.gov/pubmed/28116953

2016

Bashford JA, Chowdhury FA, Shaw CE.
Remarkable motor recovery after riboflavin therapy in adult-onset Brown-Vialetto-Van Laere syndrome. Pract Neurol. 2016 Oct 24 https://www.ncbi.nlm.nih.gov/pubmed/27777325

Udhayabanu T, Subramanian VS, Teafatiller T, Raju KN, Raghavan VS, Varalakshmi P, Said HM, Ashokkumar B. SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: first genetically proven case with mutations in two riboflavin transporters. Clin Chim Acta. 2016 Oct 1 https://www.ncbi.nlm.nih.gov/pubmed/27702554

Barile M, Giancaspero TA, Leone P, Galluccio M, Indiveri C. Riboflavin transport and metabolism in humans. J Inherit Metab Dis. 2016 Jun 6 https://www.ncbi.nlm.nih.gov/pubmed/27271694

Shashi V, Petrovski S, Schoch K, Crimian R, Case LE, Khalid R, El-Dairi MA, Jiang YH, Mikati MA, Goldstein DB. Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing. Cold Spring Harb Mol Case Stud. 2015 Oct http://www.ncbi.nlm.nih.gov/pubmed/27148562

Petrovski S, Shashi V, Petrou S, Schoch K, McSweeney KM, Dhindsa RS, Krueger B, Crimian R, Case LE, Khalid R, El-Dairi MA, Jiang YH, Mikati MA, Goldstein DB. Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition. Cold Spring Harb Mol Case Stud. 2015 Oct 1 http://www.ncbi.nlm.nih.gov/pubmed/27148561

Intoh A, Suzuki N, Koszka K, Eggan K
SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation.
Hum Mol Genet. 2016 Mar 13
http://www.ncbi.nlm.nih.gov/pubmed/26976849

Hum._Mol._Genet.-2016-Intoh-hmg-ddw053.pdf
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Menezes MP, O'Brien K, Hill M, Webster R, Antony J, Ouvrier R, Birman C,Gardner-Berry K.
Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency.
Dev Med Child Neurol. 2016 Feb 25.
http://www.ncbi.nlm.nih.gov/pubmed/26918385
BVVL_axon_excitability_Clin_Neurophysiol_2015_Menezes_Farrar-2.pdf
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BVVL Audiology DMCN 2016 Menezes-2.pdf
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2015

Horoz OO, Mungan NO, Yildizdas D, Herguner O, Ceylaner S, Kor D, Waterham H, Coskun T.
Brown-Vialeto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic affect of high-dose riboflavin
J Pediatr Endocrinol Metab. 2015 Oct. 7
http://www.ncbi.nlm.nih.gov/pubmed/26444347

Davis A, Josifova D, Lloyd-Owen S, Radunovic A, Swash M.
Brown-Vialetto-Van Laere syndrome: a 28 year follow up
J Neurol Neurosurg Psychiatry. 2015 Oct. 6.
http://www.ncbi.nlm.nih.gov/pubmed/26443808

Chandran R, Alexander M, Naina P, Balraj A.
Auditory neuropathy spectrum disorder with Brown-Vialetto-Van Laere syndrome: challenges in hearing rehabilitation.
J Laryngol Otol. 2015 May, 129(5): 504-8. doi: 10.1017/S0022215114003375 Pub Med
http://www.ncbi.nlm.nih.gov/pubmed/25994385

Subramanian VS, Kapadia R, Ghosal A, Said HM.
Identification of residues/sequences in the human riboflavin transporter-2 that is important for function and cell biology. Nutr Metab (Lond). 2015 Mar 14;12:13. doi: 10.1186/s12986-015-0008-3. eCollection 2015.
http://www.ncbi.nlm.nih.gov/pubmed/25798182

Varadarajan P, Thayanathi V, Pauline LC.
Fazio Londe syndrome: A treatable disorder.
Ann Indian Acad Neurol. 2015 Jan-Mar;18(1):87-9. doi: 10.4103/0972-2327.144283.
http://www.ncbi.nlm.nih.gov/pubmed/25745320

2014

Cosgrove J, Datta S, Busby M.
Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: A case report. Clin Neurol Neurosurg. 2014 Nov 4
http://www.ncbi.nlm.nih.gov/pubmed/25462087

Manole A1, Fratta P, Houlden H. Recent advances in bulbar syndromes: genetic causes and disease mechanisms.Curr Opin Neurol. 2014 Oct
http://www.ncbi.nlm.nih.gov/pubmed/25159929

Foley AR1, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, Webster R, Broomfield A, Ng J, Mathew AA, O'Byrne JJ, Forman E, Scoto M, Prasad M, O'Brien K, Olpin S, Oppenheim M, Hargreaves I, Land JM, Wang MX, Carpenter K, Horvath R, Straub V, Lek M, Gold W, Farrell MO, Brandner S, Phadke R, Matsubara K, McGarvey ML, Scherer SS, Baxter PS, King MD, Clayton P, Rahman S, Reilly MM, Ouvrier RA, Christodoulou J, Züchner S, Muntoni F, Houlden H. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.Brain. 2014 Jan Epub 2013 Nov 19. http://www.ncbi.nlm.nih.gov/pubmed/24253200

2013

Nalini A, Pandraud A, Mok K, Houlden H. Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome. J Neurol Sci. 2013 Nov 15;334(1-2):119-22. doi: 10.1016/j.jns.2013.08.003. Epub 2013 Aug 13.
http://www.ncbi.nlm.nih.gov/pubmed/24139842

Ciccolella M1, Corti S, Catteruccia M, Petrini S, Tozzi G, Rizza T, Carrozzo R, Nizzardo M, Bordoni A, Ronchi D, D'Amico A, Rizzo C, Comi GP, Bertini E. Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations. J Med Genet. 2013 Feb;50(2):104-7. doi: 10.1136/jmedgenet-2012-101204. Epub 2012 Dec 14. http://www.ncbi.nlm.nih.gov/pubmed/23243084

Yonezawa A, Inui K. Novel riboflavin transporter family RFVT/SLC52: identification, nomenclature, functional characterization and genetic diseases of RFVT/SLC52. Mol Aspects Med. 2013 Apr-Jun;34(2-3):693-701. doi: 10.1016/j.mam.2012.07.014.
http://www.ncbi.nlm.nih.gov/pubmed/23506902

Yao Y1, Yonezawa A, Yoshimatsu H, Omura T, Masuda S, Matsubara K.
Involvement of riboflavin transporter RFVT2/Slc52a2 in hepatic homeostasis of riboflavin in mice. Eur J Pharmacol. 2013 Aug 15;714(1-3):281-7. doi: 10.1016/j.ejphar.2013.07.042. Epub 2013 Aug 1.
http://www.ncbi.nlm.nih.gov/pubmed/23911957

2012

Ghosal A1, Said HM.
Mechanism and regulation of vitamin B2 (riboflavin) uptake by mouse and human pancreatic β-cells/islets: physiological and molecular aspects. Am J Physiol Gastrointest Liver Physiol. 2012 Nov 1;303(9):G1052-8. doi: 10.1152/ajpgi.00314.2012. Epub 2012 Aug 23.
http://www.ncbi.nlm.nih.gov/pubmed/22917629

Bosch AM, Stroek K, Abeling NG, Waterham HR, Lodewijk I, Wanders RJ. The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.Orphanet Journal of Rare Diseases. 2012 7:83 doi: 10.1186/1750-1172-7-83. Epub 2012 Oct 29. http://www.ojrd.com/content/7/1/83/abstract

Johnson JO, Gibbs JR, Megarbane A, Urtizberea JA, Hernandez DG, Foley AR, Arepalli S, Pandraud A, Simon-Sanchez J, Glayton P, Reilly MM, Muntoni F, Abramzon Y, Houlden H, Singleton AB. Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease. Brain 2012 Sep;135(Pt 9):2875-82. Epub 2012 Jun 26. http://www.ncbi.nlm.nih.gov/pubmed/22740598

Nabokina SM, Subramanian VS, Said HM. Effect of clinical mutations on functionality of the human riboflavin transporter-2 (hRFT-2).Mol Genet Metab. 2012 Apr;105(4):652-7. Epub 2012 Jan 5. http://www.ncbi.nlm.nih.gov/pubmed/22273710

Spagnoli C, De Sousa C. Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease - treatable motor neuron diseases of childhood.Dev Med Child Neurol. 2012 Apr;54(4):292-3. doi: 10.1111/ j.1469-8749. 2011.04179.x Epub 2011 Dec 29.http://www.ncbi.nlm.nih.gov/pubmed/22211384

Anand G, Hasan N, Jayapal S, Huma Z, Ali T, Hull J, Blair E, McShane T, Jayawant S. Early use of high-dose riboflavin in a case of Brown-Vialetto-Van Laere syndrome. Dev Med Child Neurol. 2012 Feb;54(2):187-9. doi: 10.1111/j.1469-8749.2011.04142.x. Epub 2011 Nov 18. http://www.ncbi.nlm.nih.gov/pubmed/22098162

2011

Bosch AM, Abeling NG, Ijlst L, Knoester H, van der Pol WL, Stroomer AE, Wanders RJ, Visser G, Wijburg FA, Duran M, Waterham HR. Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J Inherit Metab Dis. 2011 Feb;34(1):159-64. Epub 2010 Nov 26. http://www.ncbi.nlm.nih.gov/pubmed/22976761

da Silva-Júnior FP, Moura Rde D, Rosemberg S, Marchiori PE, Castro LH. Cor pulmonale in a patient with Brown-Vialetto-Van Laere syndrome: a case report.J Neurol Sci. 2011 Jan 15;300(1-2):155-6. Epub 2010 Nov 5. http://www.ncbi.nlm.nih.gov/pubmed/21055769

Sinnathuray AR, Watson DR, Fruhstorfer B, Olarte JR, Toner JG. Cochlear Implantation in Brown-Vialetto-Van-Laere syndrome.J Laryngol Otol. 2011 Mar;125(3):314-7. Epub 2010 Oct 19. http://www.ncbi.nlm.nih.gov/pubmed/20955635

2010

Johnson JO, Gibbs JR, Van Maldergem L, Houlden H, Singleton AB. Exome sequencing in Brown-Vialetto-van Laere syndrome.Am J Hum Genet.2010 Oct 8;87(4):567-9; author reply 569- 70. http://www.ncbi.nlm.nih.gov/pubmed/20920669

Green P, Wiseman M, Crow YJ, Houlden H, Riphagen S, Lin J, Raymond FL, Childs A, Sheridan E, Edwards S, Josifova DJ. Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54. The American Journal of Human Genetics. March 4, 2010.
http://www.ncbi.nlm.nih.gov/pubmed/20206331

2009 and Preceding

Dakhil FO, Bensreiti SM, Zew MH. Pontobulbar palsy and sensorineural deafness (Brown-Vialetto-van Laere syndrome): the first case from Libya. Amyotrophic Lateral Sclerosis. 2009. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/20001484

Fell D. Anesthesia in Brown-Vialetto-Van Laere syndrome. Paediatr Anaesth. 2009 Nov;19(11):1130-1. http://www3.interscience.wiley.com/journal/122615669/abstract?CRETRY=1&SRETRY=0

Nickols HH, Qualtieri J, Wills ML, Kinney HC, Becher, MW. The neuropathology of Brown-Vialetto-Van Laere Syndrome (BVVL): a detailed case report. Journal of Neuropathology and Experimental Neurology 2009, May 68;5:552-593.

Sathasivam S. Brown-Vialetto-Van Laere syndrome. Orphanet Journal of Rare Diseases 2008, April 17;3:9. http://www.ncbi.nlm.nih.gov/pubmed/18416855?dopt=AbstractPlus (As of April 2008, the most comprehensive review of BVVL).

Malheiros JA, Camargos ST, de Oliveira JT, Cardoso FEC. A brazilian family with Brown-Vialetto-Van Laere syndrome with autosomal recessive inheritance. Arq Neuropsiquiatr. 2007;65:32–35.

Koul R, Jain R, Chacko A, Alfutaisi A, Hashim J, Chacko J. Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with hyperintense brainstem nuclei on magnetic resonance imaging: new finding in three siblings. J Child Neurol. 2006;21:523–525.

Dipti S, Childs A-M, Livingston JH, Aggarwal AK, Miller M, Williams C, Crow YJ. Brown-Vialetto-Van Laere syndrome: variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease. Brain Dev. 2005;27:443–446.

Prabhu HV, Brown MJK. Brown-Vialetto-Van Laere syndrome: a rare syndrome in otology – case report and literature review. J Laryngol Otol. 2005;119:470–472.

Nemoto H, Konno S, Nomoto N, Wakata N, Kurihara T. A case of Brown-Vialetto-van Laere (BVVL) syndrome in Japan. Clin Neurol. 2005;45:357–361.

Aydin, ÖF.;Özcelikel, D.;Senbil, N.; Gürer, YKY. Brown-Vialetto-van Laere syndrome; the first turkish case. Acta Neurol Belg. 2004;104:111–113.

RamachandranNair R, Parameswaran M, Girija AS. Vialetto-Van Laere syndrome in two sisters born to consanguineous parents. Pediatr Neurol. 2004;30:354–355.

Introini S, Sasso GM, Moioli G, Morandini WL. Un caso clinico Sindrome di Brown-Vialetto-Van Laere. Minerva Anestesiol. 2003;69:75–79.

Voudris KA, Skardoutsou A, Vagiakou A. Infantile progressive bulbar palsy with deafness. Brain Dev. 2002;24:732–735.

Mégarbané A, Desguerres I, Rizkallah E, Delague V, Nabbout R, Barois A, Urtizberea A. Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance? Am J Med Genet. 2000;92:117–121.

Sathasivam S, O'Sullivan S, Nicolson A, Tilley PJ, Shaw PJ. Brown-Vialetto-Van Laere syndrome: case report and literature review. Amyotroph Lateral Scler Other Motor Neuron Disord. 2000;1:277–281.

Orrell RW, Habgood JJ, De Belleroche JS, Lane RJM. The relationship of spinal muscular atrophy to motor neuron disease: investigation of SMN and NAIP gene deletions in sporadic and familial ALS. J Neurol Sci. 1997;145:55–61.

Puri V, Rohtagi A, Parihar PS. Ponto-bulbar palsy with deafness (Vialetto-Van Laere syndrome). Indian Pediatr. 1996;33:140–142.

Davenport RJ, Mumford CJ. The Brown-Vialetto-Van Laere syndrome: a case report and literature review. Eur J Neurol. 1994;1:51–54.

Francis DA, Ponsford JR, Wiles CM, Thomas PK, Duchen LW. Case report. Brown-Vialetto-Van Laere syndrome. Neuropathol Appl Neurobiol. 1993;19:91–94.

Abarbanel JM, Ashby P, Marquez-Julio A, Chapman KR. Bulbo-pontine paralysis with deafness: the Vialetto-Van Laere syndrome. Can J Neurol Sci. 1991;18:349–351.

Hawkins SA, Nevin NC, Harding AE. Pontobulbar palsy and neurosensory deafness (Brown-Vialetto-Van Laere syndrome) with possible autosomal dominant inheritance. J Med Genet. 1990;27:176–179.

Rosemberg S, Carmen LP, Arita F, Campos C, de Castro NP Jr. Progressive bulbar paralysis of childhood (Fazio-Londe disease) with deafness. Eur Neurol. 1982;21:84–89.

Gallai V, Hockaday JM, Hughes JT, Lane DJ, Oppenheimer DR, Rushworth G. Ponto-bulbar palsy with deafness (Brown-Vialetto-Van Laere syndrome). J Neurol Sci. 1981;50:259–275.

Brucher JM, Dom R, Lombaert A, Carton H. Progressive pontobulbar palsy with deafness. Clinical and pathological study of two cases. Arch Neurol. 1981;38:186–190.

Serratrice G, Gastaut JL. Amyotrophies dégénératives et lesions du neurone moteur (á propos de 32 observations). Marseille Méd. 1972;109:821–840.

Boudin G, Pépin B, Vernant JC, Gautier B, Gouérou H. Cas familial de paralysie bulbo-pontine chronique progressive avec surdité Rev Neurol. 1971;124:90–92.

Orrell RW, Habgood JJ, De Belleroche JS, Lane RJM. The relationship of spinal muscular atrophy to motor neuron disease: investigation of SMN and NAIP gene deletions in sporadic and familial ALS. J Neurol Sci. 1997;145:55–61.
The original publications and authors for which the disease is named:

Brown CH. Infantile amyotrophic lateral sclerosis of the family type. J Nerv Ment Dis. 1894;21:707–716.

Vialetto E. Contributo alla forma ereditaria della paralisi bulbare progressive. Riv Sper Freniat. 1936;40:1–24.

Van Laere J. Paralysie bulbo-pontine chronique progressive familiale avec surdité. Un cas de syndrome de Klippel-Trenaunay dans la même fratrie – problèmes diagnostiques et génétiques. Rev Neurol. 1966;115:289–295.

Van Laere J. Over een nieuw geval van chronische bulbopontine paralysis met doofheid. Verh Vlaam Akad Geneesk Belg. 1967;30:228–308.

Van Laere J. Un nouveau cas de paralysie bulbo-pontine chronique progressive avec surdité Rev Neurol. 1977;133:119–124.