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:

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:


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.

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.

Set KK, Weber ARB, Serajee FJ, Huq AM. Clinical Reasoning: Siblings with progressive weakness, hypotonia, nystagmus, and hearing loss. Neurology. 2018 Feb 13.

Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. Hereditary Ataxia Overview. GeneReviews.

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.

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.

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.

Garg M, Kulkarni SD, Hegde AU, Shah KN. Riboflavin Treatment in Genetically Proven Brown-Vialetto-Van Laere Syndrome. J Pediatr Neurosci. 2018 Oct-Dec.

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.

Balasubramaniam S, Christodoulou J, Rahman S. Disorders of Riboflavin Metabolism. J Inherit Metab Dis. 2019 Jan 24.


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.

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.

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.

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.

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.

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.

Fan J, Fogel BL. Successful treatment of a genetic childhood ataxia due to riboflavin transporter deficiency. Cerebellum Ataxias. 2018 Oct 20.

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.

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.

Forman EB, Foley AR, King MD. Dramatic Improvement of a Rare Syndrome WithHigh Dose Riboflavin Treatment.  Pediatr Neurol. 2018 Jun 1.

 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

Bodensteiner JB.  Editorial Comment: Brown-Vialetto-Van Laere and the Advances in Molecular Medicine.  Semin Pediatr Neurol. 2018 Jul

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

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

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

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.


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.

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

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

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.

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.

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

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

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

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   

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

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

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


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

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

Barile M, Giancaspero TA, Leone P, Galluccio M, Indiveri C.  Riboflavin transport and metabolism in humans.  J Inherit Metab Dis. 2016 Jun 6

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

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

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

1.2 MB

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.
869.0 KB

BVVL Audiology DMCN 2016 Menezes-2.pdf
94.4 KB


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

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.

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

Subramanian VSKapadia RGhosal ASaid 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.

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.


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

Manole A1, Fratta P, Houlden H. Recent advances in bulbar syndromes: genetic causes and disease mechanisms.Curr Opin Neurol. 2014 Oct

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.


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.

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.

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.

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.


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.

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.

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.

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.

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.

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.


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.

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.

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.


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.

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.

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]

Fell D. Anesthesia in Brown-Vialetto-Van Laere syndrome. Paediatr Anaesth. 2009 Nov;19(11):1130-1.

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.  (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.