Results 1 to 10 of about 97 (78)

Brown-Vialetto-Van Laere syndrome [PDF]

Orphanet Journal of Rare Diseases, 2008
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.
Sathasivam Sivakumar
doaj   +5 more sources

Riboflavin in Brown-Vialetto-Van Laere Syndrome

Pediatric Neurology Briefs, 2014
Investigators at Great Ormond Street Hospital, London, UK, and multiple centers internationally report the response to high-dose oral riboflavin therapy in 18 patients from 13 families with mutations in SLC5ZA2, encoding riboflavin transporter RTVT2, a ...
J Gordon Millichap, John J Millichap
doaj   +4 more sources

Riboflavin treatment in genetically proven Brown–Vialetto–Van Laere syndrome

Journal of Pediatric Neurosciences, 2018
Brown–Vialetto–Van Laere (BVVL) syndrome is a rare motor neuron disorder of childhood, which forms a continuous spectrum with Fazio–Londe syndrome. It is an autosomal-recessive inherited disease caused by mutations in intestinal riboflavin transporter ...
Meenal Garg, Shilpa D Kulkarni, Anaita U Hegde, Krishnakumar N Shah   +3 more
doaj   +4 more sources

Association of UBQLN1 mutation with Brown–Vialetto–Van Laere syndrome but not typical ALS [PDF]

Neurobiology of Disease, 2012
Genetic variants in UBQLN1 gene have been linked to neurodegeneration and mutations in UBQLN2 have recently been identified as a rare cause of amyotrophic lateral sclerosis (ALS).
Paloma González-Pérez, Yubing Lu, Ru-Ju Chian, Peter C. Sapp, Rudolph E. Tanzi, Lars Bertram, Diane McKenna-Yasek, Fen-Biao Gao, Robert H. Brown, Jr.   +8 more
doaj   +5 more sources

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

Frontiers in Genetics, 2022
Purpose: This study reports the clinical and genetic features of Brown-Vialetto-Van Laere syndrome (BVVL) type 2 in a case of uniparental disomy of chromosome 8 in mainland China and analyzes the genotype-phenotype correlation through a review of the ...
Siyu Zhao, Fengyu Che, Le Yang, Yanyan Zheng, Dong Wang, Ying Yang, Yan Wang   +6 more
doaj   +3 more sources

A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance Descrição de uma família brasileira com síndrome de Brown-Vialetto-van Laere com herança autossômica recessiva [PDF]

Arquivos de Neuro-Psiquiatria, 2007
We report the first Brazilian family with Brown-Vialetto-van Laere syndrome. The presence of consanguineous marriages and illness affecting three sisters and one niece support an autosomal recessive transmission.
José Augusto Malheiros, Sarah Teixeira Camargos, José Teotonio de Oliveira, Francisco E.C. Cardoso   +3 more
doaj   +5 more sources

Audiological findings in Brown Vialetto-Van-Laere Syndrome: A scoping review

Brazilian Journal of Otorhinolaryngology
Objective: This study aimed to characterize audiological porfile in inviduals with Brown-Vialetto-Van Laere syndrome (BVVLS). Methods: This is a scoping review following the methodological structure developed by the Joana Briggs Institute (JBI).
Débora de Oliveira Rolim, Leticia Cristina Vicente, Hugo Amilton Santos de Carvalho, Rebeca Lorrane Santana Santos, Rivadávio Fernandes Batista de Amorim, Fayez Bahmad, Jr   +5 more
doaj   +4 more sources

Review of Brown-Vialetto-Van Laere syndrome and differential diagnosis

Iranian South Medical Journal, 2011
Background: Brown-Vialetto-Van Laere syndrome is a neurological devastating condition classified as one of motor neuron disorders. In spite of rarity, it has a widespread distribution.
Shahryar Nafisi, Samira Yadegary, Hooman Salimipour, Rozita Naieni   +3 more
doaj   +1 more source

Brown–Vialetto–Van Laere syndrome: Egyptian case report

Alexandria Journal of Medicine, 2012
We report an Egyptian case with Brown–Vialetto–Van Laere syndrome. A five-year-old girl with progressive hearing loss was documented by brainstem auditory evoked potentials (BAEP) as sensorineural deafness, bilateral facial palsy and bilateral partial vocal cord paralysis in the paramedian position.
Tarek Omar
exaly   +3 more sources

Case Report: A rare treatable metabolic syndrome (Brown-Vialetto-Van Laere syndrome) masquerading as chronic inflammatory demyelinating polyneuropathy from Saudi Arabia

Frontiers in Pediatrics
BackgroundBrown-Vialetto-Van Laere (BVVL) syndrome is an extremely rare autosomal recessive progressive motoneuron disease that is caused by a defect in the riboflavin transporter genes SLC52A2 and SLC52A3.
Amal Y. Kentab, Amal Y. Kentab, Yara Alsalloum, Mai Labani, Abrar Hudairi, Muddathir H. Hamad, Dima Z. Jamjoom, Ali H. Alwadei, Ali H. Alwadei, Reem M. Alhammad, Fahad A. Bashiri, Fahad A. Bashiri   +11 more
doaj   +3 more sources