Currently, a large collaborative effort among physicians and researchers in the United Kingdom and the United States are 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. However, more samples from affected families are needed in order to expand this research.

Contact Dr. Brooke Allen, BVVL International's Chief Advisor, for more information: info@bvvlinternational.org


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.

More recent publications:

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. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/20206331

(The first report of a genetic finding)

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.