Brown–Vialetto–Van laere syndrome: A rare, potentially treatable neurometabolic disorder!
Neurological Sciences and Neurophysiology, 2023 Swati Parida +5 more
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Auditory Neuropathy Spectrum Disorder in Brown- Vialetto-Van Laere Syndrome
Auditory and Vestibular Research, 2022 Background and Aim: This study shows the clinical symptoms pertinent to auditory neuropathy spectrum disorder (ANSD) for a 16-year-old girl with Brown-Vialetto-Van Laere Syndrome (BVVL). The results have been followed for six years between 2015 and 2021.
Talebi, H.
openaire +2 more sources
A Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in SLC52A3 Gene: Clinical Course and Response to Riboflavin. [PDF]
Child Neurol Open, 2017 Brown-Vialetto-Van Laere syndrome is a rare disorder characterized by motor, sensory, and cranial neuronopathies, associated with mutations in SLC52A2 and SLC52A3 genes that code for human riboflavin transporters RFVT2 and RFVT3, respectively.
Thulasi V +4 more
europepmc +2 more sources
Remarkable motor recovery after riboflavin therapy in adult-onset Brown-Vialetto-Van Laere syndrome. [PDF]
Pract Neurol, 2017 The clinical diagnosis of Brown—Vialetto—Van Laere syndrome in this woman with rapidly progressive pontobulbar palsy led to empirical high-dose oral riboflavin (1200 mg/day) therapy.
Bashford JA, Chowdhury FA, Shaw CE.
europepmc +2 more sources
Stem Cell Research, 2021 Brown-Vialetto-Van Laere syndrome-2 is a rare neurological disorder characterized by sensory neuronopathy and pontobulbar palsy, caused by variations in SLC52A2 and SLC52A3 genes, encoding the riboflavin transporters.
Jiehui Ma +5 more
doaj +1 more source
Fifty years of research on mitochondrial fatty acid oxidation disorders: The remaining challenges
Journal of Inherited Metabolic Disease, Volume 46, Issue 5, Page 848-873, September 2023., 2023 Abstract Since the identification of the first disorder of mitochondrial fatty acid oxidation defects (FAOD) in 1973, more than 20 defects have been identified. Although there are some differences, most FAOD have similar clinical signs, which are mainly due to energy depletion and toxicity of accumulated metabolites.
Christine Vianey‐Saban +3 more
wiley +1 more source
Benefit of high‐dose oral riboflavin therapy in riboflavin transporter deficiency
Journal of the Peripheral Nervous System, Volume 28, Issue 3, Page 308-316, September 2023., 2023 Abstract Riboflavin transporter deficiency (RTD) is a progressive inherited neuropathy of childhood onset, characterised by pontobulbar palsy, sensorineural deafness, sensory ataxia, muscle weakness, optic atrophy and respiratory failure. Riboflavin supplementation is beneficial in short‐term reports, but the quantum of benefit in various clinical ...
Jack R. Fennessy +3 more
wiley +1 more source
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome. [PDF]
J Inherit Metab Dis, 2012 Brown-Vialetto-Van Laere syndrome (BVVLS [MIM 211530]) is a rare neurological disorder characterized by infancy onset sensorineural deafness and ponto-bulbar palsy.
Haack TB +15 more
europepmc +3 more sources
Lingual fasciculation: A point of call for the diagnosis of amyotrophic lateral sclerosis
Clinical Case Reports, Volume 11, Issue 6, June 2023., 2023 Photographs showing ALS symptoms: fasciculations, lingual mobility limitations, perlèches. Key Clinical Message A 60‐year‐old female patient, with no notable medical history, was referred by the internal medicine department for a dry mouth workup.
L. Galeazzi +3 more
wiley +1 more source
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. [PDF]
Am J Hum Genet, 2010 Brown-Vialetto-Van Laere syndrome is a rare neurological disorder with a variable age at onset and clinical course. The key features are progressive ponto-bulbar palsy and bilateral sensorineural deafness.
Green P +10 more
europepmc +2 more sources