in finding a cure.
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 BVVL and a similar disease, Fazio Londe.
In October 2012, Dr. Bosch's team published a review on the literature of BVVL 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
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 Brown-Vialetto-Van Laere. March 4, 2010, brought forth the first publication of a BVVL genetic finding, on C20orf54 (See below). Since that time, other genes have been named in the BVVL 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
Research Publications
2012:
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, Simón-Sánchez J, Clayton 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]
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
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
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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
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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.