Results 1 to 10 of about 520 (140)

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   +8 more sources

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

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   +6 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   +9 more sources

Cochlear Implant in Brown-Vialetto-Van Laere Syndrome Patient. [PDF]

J Int Adv Otol, 2022
The Brown–Vialetto–Van Laere syndrome or the riboflavin transporter deficiency syndrome is a neurodegenerative disorder initially reported by Brown in 1894, by Vialetto in 1936, and by Van Laere in 1966. The syndrome has been described in more than 100 patients since then.
do Amaral MSA, Massuda ET, Mitikami Fenólio GH, Barbosa Reis ACM, Angelo Hyppolito M.   +4 more
europepmc   +5 more sources

A Case with Brown-Vialetto-Van Laere Syndrome: A Sudden Onset Auditory Neuropathy Spectrum Disorder [PDF]

Turkish Archives of Otorhinolaryngology, 2019
The Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurological disorder that may present at all ages with sensorineural hearing loss, bulbar palsy and respiratory compromise.
Başak Mutlu, Merve Torun Topçu, Ayça Çiprut   +2 more
doaj   +4 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   +5 more sources

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

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   +4 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 [PDF]

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   +2 more sources

Exome sequencing in Brown-Vialetto-van Laere syndrome. [PDF]

Am J Hum Genet, 2010
To the Editor: Brown-Vialetto-van Laere syndrome (BVVL [MIM 211530]) is a rare, progressive, childhood neurodegenerative disease that is characterized by pontobulbar palsy, sensorineural hearing loss, and respiratory problems. BVVL is clinically heterogeneous, presenting as early as the neonatal period and as late as the third decade of life.1 BVVL has
Johnson JO, Gibbs JR, Van Maldergem L, Houlden H, Singleton AB.   +4 more
europepmc   +4 more sources

A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin [PDF]

BMC Medical Genetics, 2019
Background Brown-Vialetto-Van Laere Syndrome (BVVLS), a rare neurological disorder characterized by motor, sensory, and cranial neuronopathies, is mainly associated with defective riboflavin transporters encoded by SLC52A2 and SLC52A3 genes.
Kaili Shi, Zhen Shi, Huifang Yan, Xiaodong Wang, Yanling Yang, Hui Xiong, Qiang Gu, Ye Wu, Yuwu Jiang, Jingmin Wang   +9 more
doaj   +2 more sources