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.
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