Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: a case report

Clin Neurol Neurosurg. 2015 Jan:128:1-3. doi: 10.1016/j.clineuro.2014.10.016. Epub 2014 Nov 4.

Authors

Jeremy Cosgrove¹, Sayan Datta², Mark Busby²

Affiliations

¹ Department of Neurology, Leeds General Infirmary, Leeds Teaching Hospitals NHS Trust, Leeds, UK. Electronic address: jeremycosgrove@nhs.net.
² Department of Neurology, Bradford Royal Infirmary, Bradford Teaching Hospitals NHS Foundation Trust, Bradford, UK.

PMID: 25462087
DOI: 10.1016/j.clineuro.2014.10.016

No abstract available

Keywords: Brown–Vialetto–Van Laere; Neuromuscular disease; Riboflavin.

Publication types

Case Reports

MeSH terms

Adult
Age of Onset
Bulbar Palsy, Progressive / complications
Bulbar Palsy, Progressive / diagnosis*
Bulbar Palsy, Progressive / genetics
Female
Hearing Loss, Sensorineural / complications
Hearing Loss, Sensorineural / diagnosis*
Hearing Loss, Sensorineural / genetics
Heterozygote
Humans
Membrane Transport Proteins / genetics*
Mutation
Ocular Motility Disorders / diagnosis*
Ocular Motility Disorders / etiology
Ocular Motility Disorders / genetics

Substances

Membrane Transport Proteins
SLC52A3 protein, human

Supplementary concepts

Brown-Vialetto-Van Laere syndrome