Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Pathophysiology of motor dysfunction in a childhood motor neuron disease caused by mutations in the riboflavin transporter.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology - 1 Jan 2016

Menezes Manoj P, Farrar Michelle A, Webster Richard, Antony Jayne, O'Brien Katherine, Ouvrier Robert, Kiernan Matthew C, Burns Joshua, Vucic Steve

Abstract excerpt

OBJECTIVE: Brown-Vialetto-Van Laere (BVVL) syndrome is a progressive motor and sensory neuronopathy secondary to mutations in SLC52A2 encoding the riboflavin transporter type 2 (RFVT2). The phenotype is characterized by early childhood onset hearing loss and sensory ataxia followed by progressive upper limb weakness, optic atrophy, bulbar weakness and respiratory failure. To gain further insight into disease...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss, Sensorineural

Share to Membrane Transport Proteins

Share to Motor Neuron Disease

Share to Mutation

Share to Receptors, G-Protein-Coupled

Share to Young Adult

Source

Identifiers

PMID: 26092362
DOI: 10.1016/j.clinph.2015.05.012

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Pathophysiology of motor dysfunction in a childhood motor neuron disease caused by mutations in the riboflavin transporter.PMID 26092362Read ↗

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.Semantic proximity Read ↗

Electrodiagnostic Findings in Riboflavin Transporter Deficiency Type 2.Semantic proximity Read ↗

Mitochondrial impairment and rescue in riboflavin responsive neuropathySemantic proximity Read ↗

Autosomal Dominant Brown-Vialetto-Van Laere Syndrome: A New Case and Systematic Review of a Treatable Neurometabolic DisorderSemantic proximity Read ↗

Recent advances in bulbar syndromes: genetic causes and disease mechanisms.Semantic proximity Read ↗

Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome.Semantic proximity Read ↗

Brown-Vialetto-van Laere syndrome: a riboflavin responsive neuronopathy of infancy with singular features.Semantic proximity Read ↗

Auditory neuropathy in Brown-Vialetto-Van Laere syndrome due to riboflavin transporter RFVT2 deficiency.Semantic proximity Read ↗

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

Atypical presentations in an RTD patient and report of novel SLC52A3 and SLC52A2 mutations.Semantic proximity Read ↗

Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown–Vialetto disease that is partially rescued by riboflavinSemantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.