Results 41 to 50 of about 7,746,465 (115)

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

Orphanet Journal of Rare Diseases, 2012
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.
Bosch Annet M, Stroek Kevin, Abeling Nico G, Waterham Hans R, IJlst Lodewijk, Wanders Ronald JA   +5 more
doaj   +1 more source

Genotype–Phenotype Relationships in Patients Carrying Biallelic FDXR Pathogenic Variants—New Cases and Systematic Review

Human Mutation, Volume 2026, Issue 1, 2026.
Biallelic pathogenic FDXR variations were identified in 2017 as being responsible for sensorial neuropathies. The first reported patients suffered from auditory and optic sensorineural impairments (ANOA, MIM #617717). Since then, many publications have described various phenotypes including peripheral and central nervous systems impairments (MMDS9B ...
Antoine Paul, Ghizlene Lahlou, Sophie Achard, Jérôme Nevoux, Isabelle Mosnier, Isabelle Rouillon, Yann Nguyen, Maya Benali, Jean-François Papon, Agnes Rotig, Margaux Serey-Gaut, Celine Labeyrie, Guillemette Beaudonnet, Laurence Jonard, Ralyath Balogoun, Sandrine Marlin, Miklos Sahin -Toth   +16 more
wiley   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, Volume 98, Issue 3, Page 448-470, September 2025.
[Color figure can be viewed at www.annalsofneurology.org] Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

Long‐term outcomes in children with riboflavin transporter deficiency and surveillance recommendations

Developmental Medicine &Child Neurology, Volume 67, Issue 3, Page 405-415, March 2025.
This paper provides detailed long‐term outcome data for children with riboflavin transporter deficiency. Individuals who are treated early after symptom onset have better outcomes compared to those in whom diagnosis, and therefore treatment, was delayed.
Jack R. Fennessy, Kayla M. D. Cornett, Gabrielle A. Donlevy, Marnee J. Mckay, Joshua Burns, Manoj P. Menezes   +5 more
wiley   +1 more source

Riboflavin transporter deficiency in young adults unmasked by dietary changes

JIMD Reports, Volume 65, Issue 4, Page 233-238, July 2024.
Abstract Riboflavin transporter deficiency (RTD) is a genetic disorder of reduced riboflavin (vitamin B2) uptake that causes progressive, multifocal neurological dysfunction. Most patients present in early childhood; if patients present later in life, symptoms usually develop more gradually.
Bregje Jaeger, Mirjam Langeveld, Robert Brunkhorst, Felix Distelmaier, Ana Pop, Nicole I. Wolf, Annet M. Bosch   +6 more
wiley   +1 more source

T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot‐Marie‐Tooth Features: A Case Series and Review of the Literature

Case Reports in Genetics, Volume 2018, Issue 1, 2018., 2018
The clinical effect of T118M variant of the PMP22 gene has been controversial. Several studies have suggested that it may be autosomal recessive, partial loss of function, or a benign variant. Here we report three cases in further support that the T118M variant of the PMP22 gene is a partial loss of function variant.
Kwo Wei David Ho, Nivedita U. Jerath, Balraj Mittal   +2 more
wiley   +1 more source

Child Neurology: Brown-Vialetto-Van Laere syndrome [PDF]

Neurology, 2018
Brown-Vialetto-Van Laere syndrome (BVVL) is a rare, progressive neurodegenerative disease with fewer than 100 cases reported in the literature. It is characterized by pontobulbar palsy and sensorineural hearing loss.1 The age at onset varies from infancy to early adulthood, commonly presenting with cranial nerve VII–XII palsies and deafness.
Ahmed K, Bamaga, Robi N, Maamari, Susan M, Culican, Marwan, Shinawi, Paul T, Golumbek   +4 more
openaire   +2 more sources

Remarkable motor recovery after riboflavin therapy in adult-onset Brown–Vialetto–Van Laere syndrome [PDF]

, 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, James A.; id_orcid, Shaw, Chris E., Chowdhury, Fahmida A.   +2 more
core   +1 more source

Bilateral Optic Atrophy and Sensorineural Hearing Loss in Two Siblings With Brown-Vialetto-Van Laere Syndrome

, 2022
The differential diagnosis of optic atrophy and hearing loss includes genetic disorders such as Wolfram syndrome and dominant optic atrophy. We report two siblings with optic atrophy, sensorineural hearing loss, and sensory neuropathy with ataxia that ...
Micalla Peng; Melinda Chang; Mark Borchert
core  

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment [PDF]

, 2010
We report on three patients (two siblings and one unrelated) presenting in infancy with progressive muscle weakness and paralysis of the diaphragm. Metabolic studies revealed a profile of plasma acylcarnitines and urine organic acids suggestive of a mild
Duran, M., Wanders, R.J., Frits A. Wijburg, Ronald J. Wanders, Annet M. Bosch, Marinus Duran, Bosch, A.M., Lodewijk IJlst, Ijlst, L., Knoester, H., Visser, G., Waterham, H.R., Gepke Visser, Stroomer, A.E.M., van der Pol, W.L., Hennie Knoester, Alida E. M. Stroomer, Wijburg, F.A., Abeling, N.G.G.M., Nico G. G. M. Abeling, W. Ludo van der Pol, Hans R. Waterham   +21 more
core   +1 more source