Brown-Vialetto-Van Laere Syndrome

Common Name(s)

Brown-Vialetto-Van Laere Syndrome

Brown-Vialetto-Van Laere syndrome (BVVL) is a type of degenerative nerve disease. Initial symptoms occur in infancy to early adulthood and progress with time. The rate of progression can vary from person to person. The syndrome is generally characterized by sensorineural deafness, paralysis of the cranial nerves, and lower and upper motor neuron disease. Signs and symptoms may include vocal cord paralysis, drooping eyelids, facial weakness, slurred speech, difficulty swallowing, diminishing eye sight, neck and shoulder weakness, weakness in the arms and legs, autonomic dysfunction, and difficulty breathing. The cause of the syndrome is currently unknown and treatment is supportive. Both genetic and sporadic cases have been reported in the medical literature.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Brown-Vialetto-Van Laere Syndrome" for support, advocacy or research.

Brown-Vialetto-Van Laere International

BVVL International is a web-based resource tool where physicians, researchers, and families go when interested in learning more about Brown-Vialetto-Van Laere syndrome.

Last Updated: 17 Apr 2015

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Thisbe and Noah Scott Foundation, Inc.

It is the mission of the Thisbe and Noah Scott Foundation, Inc. to save lives by promoting research, awareness and support for children and families affected by pediatric neuromuscular diseases.

Last Updated: 19 May 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Brown-Vialetto-Van Laere Syndrome" for support, advocacy or research.

Brown-Vialetto-Van Laere International

BVVL International is a web-based resource tool where physicians, researchers, and families go when interested in learning more about Brown-Vialetto-Van Laere syndrome.

http://www.bvvlinternational.org

Last Updated: 17 Apr 2015

View Details
Thisbe and Noah Scott Foundation, Inc.

It is the mission of the Thisbe and Noah Scott Foundation, Inc. to save lives by promoting research, awareness and support for children and families affected by pediatric neuromuscular diseases.

http://www.thisbeandnoah.org/

Last Updated: 19 May 2015

View Details

 

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Brown-Vialetto-Van Laere Syndrome" returned 12 free, full-text research articles on human participants. First 3 results:

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.
 

Author(s): Tamilarasan Udhayabanu, Veedamali S Subramanian, Trevor Teafatiller, Vykuntaraju K Gowda, Varun S Raghavan, Perumal Varalakshmi, Hamid M Said, Balasubramaniem Ashokkumar

Journal: Clin. Chim. Acta. 2016 Nov;462():210-214.

 

Brown-Vialetto-Van Laere Syndrome (BVVLS), a rare neurological disorder characterized by bulbar palsies and sensorineural deafness, is mainly associated with defective riboflavin transporters encoded by the SLC52A2 and SLC52A3 genes.

Last Updated: 31 Dec 1969

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SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation.
 

Author(s): Atsushi Intoh, Naoki Suzuki, Kathryn Koszka, Kevin Eggan

Journal: Hum. Mol. Genet.. 2016 May;25(9):1814-23.

 

Riboflavin, also known as vitamin B2, is essential for cellular reduction-oxidation reactions, but is not readily synthesized by mammalian cells. It has been proposed that riboflavin absorption occurs through solute carrier family 52 members (SLC52) A1, A2 and A3. These transporters ...

Last Updated: 31 Dec 1969

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Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency.
 

Author(s): Manoj P Menezes, Katherine O'Brien, Mandy Hill, Richard Webster, Jayne Antony, Robert Ouvrier, Catherine Birman, Kirsty Gardner-Berry

Journal: Dev Med Child Neurol. 2016 08;58(8):848-54.

 

Mutations in the genes encoding the riboflavin transporters RFVT2 and RFVT3 have been identified in Brown-Vialetto-Van Laere syndrome, a neurodegenerative disorder characterized by hearing loss and pontobulbar palsy. Treatment with riboflavin has been shown to benefit individuals ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Brown-Vialetto-Van Laere Syndrome" returned 4 free, full-text review articles on human participants. First 3 results:

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.
 

Author(s): Annet M Bosch, Kevin Stroek, Nico G Abeling, Hans R Waterham, Lodewijk Ijlst, Ronald J A Wanders

Journal:

 

The Brown-Vialetto-Van Laere syndrome is a rare neurological disorder which may present at all ages with sensorineural deafness, bulbar palsy and respiratory compromise. Fazio-Londe syndrome is considered to be the same disease entity. Recently it was demonstrated that in some patients ...

Last Updated: 31 Dec 1969

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Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease - treatable motor neuron diseases of childhood.
 

Author(s): Carlotta Spagnoli, Carlos De Sousa

Journal: Dev Med Child Neurol. 2012 Apr;54(4):292-3.

 

Last Updated: 31 Dec 1969

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Brown-Vialetto-Van Laere syndrome.
 

Author(s): Sivakumar Sathasivam

Journal:

 

The Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological disorder characterized by progressive pontobulbar palsy associated with sensorineural deafness. Fifty-eight cases have been reported in just over 100 years. The female to male ratio is approximately 3:1. The age of ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.