Results 121 to 130 of about 520 (140)

The audiovestibular profile of Brown-Vialetto-Van Laere syndrome

The Journal of Laryngology & Otology, 2021
AbstractBackgroundBrown-Vialetto-Van Laere syndrome, a rare disorder associated with motor, sensory and cranial nerve neuropathy, is caused by mutations in riboflavin transporter genes SLC52A2 and SLC52A3. Hearing loss is a characteristic feature of Brown-Vialetto-Van Laere syndrome and has been shown in recent studies to be characterised by auditory ...
R, Omar, K, Rajput, T, Sirimanna, S, Rajput, W, Pagarkar   +4 more
openaire   +2 more sources

Brown-Vialetto-Van Laere syndrome: two siblings with a new mutation and dramatic therapeutic effect of high-dose riboflavin

Journal of Pediatric Endocrinology and Metabolism, 2016
Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare and severe neurometabolic disease. We present two siblings with BVVLS with a novel homozygous mutation in SLC52A3 (formerly C20orf54) gene.
Neslihan Önenli Mungan, Dinçer Yildizdas, Özlem Herguner   +2 more
exaly   +3 more sources

Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome

Seminars in Pediatric Neurology, 2018
Brown-Vialetto-van Laere syndrome is characterized by a progressive sensorimotor neuropathy, optic atrophy, hearing loss, bulbar dysfunction, and respiratory insufficiency. Mutations in SLC52A2 and SLC52A3, encoding riboflavin transporters RFVT2 and RFVT3, respectively, are the genetic basis of this disorder, often referred to as riboflavin transporter
Ian R, Woodcock, Manoj P, Menezes, Lee, Coleman, Joy, Yaplito-Lee, Heidi, Peters, Susan M, White, Rachel, Stapleton, Dean G, Phelan, Belinda, Chong, Sebastian, Lunke, Zornitza, Stark, James, Pitt, Monique M, Ryan, Colin, Robertson, Eppie M, Yiu   +14 more
openaire   +2 more sources

Brown–Vialetto–Van Laere [BVVL] Syndrome

2017
Brown–Vialetto–Van Laere (BVVL) syndrome results in childhood-onset, progressive dysfunction of the anterior horn cells with sensorineural hearing loss. The brunt of the disease is often on the cranial nerves but limb amyotrophy can occur. Peripheral sensory involvement has been recently described.
Satish V. Khadilkar, Rakhil S. Yadav, Bhagyadhan A. Patel   +2 more
openaire   +1 more source

Ponto-bulbar palsy with deafness (Brown-Vialetto-Van Laere syndrome)

Journal of the Neurological Sciences, 1981
The authors describe the clinical and electrophysiological features in 2 cases of ponto-bulbar palsy with deafness, and the clinical course and post-mortem findings in a sibling of one of these, who died in infancy, and who appears to have suffered from the same disease.
V, Gallai, J M, Hockaday, J T, Hughes, D J, Lane, D R, Oppenheimer, G, Rushworth   +5 more
openaire   +2 more sources

Brown-Vialetto-Van Laere syndrome: a 28-year follow-up

Journal of Neurology, Neurosurgery & Psychiatry, 2015
In 1987 Summers et al 1 described a 14-year-old girl with neurogenic bulbospinal muscular atrophy and sensorineural deafness. They discussed the overlap of clinical features in Brown-Vialetto-Van Laere syndrome (BVVLS) and Madras motor neuron disease (MMND) described by Jagganathan.2 The patient was considered to have BVVLS and was among the first 20 ...
A, Davis, D, Josifova, S, Lloyd-Owen, A, Radunovic, M, Swash   +4 more
openaire   +2 more sources

Brown–Vialetto–Van Laere syndrome: A rare case report of MND mimic

Neurology India, 2020
Brown-Vialetto-Van Laere Syndrome (BVVLS) is a rare disorder characterized by progressive neuropathy, optic atrophy, hearing loss, bulbar dysfunction, and respiratory insufficiency associated with mutations in SLC52A2 and SLC52A3 genes that code for human riboflavin transporters RFVT2 and RFVT3, respectively.
P, Kranthi, Butchi Raju, Garuda, S, Gopi, T Sateesh, Kumar   +3 more
openaire   +2 more sources

A case report of sudden-onset auditory neuropathy spectrum disorder associated with Brown-Vialetto-Van Laere syndrome (riboflavin transporter deficiency)

International Journal of Audiology, 2022
Zühal Yapıcı
exaly  

Anesthesia in Brown–Vialetto–Van Laere syndrome

Pediatric Anesthesia, 2009
openaire   +1 more source

Brown-Vialetto-Van Laere syndrome: Clinical and neuroradiological findings of a genetically proven patient

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2014
Mónica Bandettini di Poggio, Cristina Cereda, Matteo Pardini   +2 more
exaly