Brown-vialetto-van laere syndrome: Clinical and neuroradiological findings of a genetically proven patient

Monica Bandettini Di Poggio, Margherita Monti Bragadin, Lizia Reni, Laura Doria-Lamba, Cristina Cereda, Matteo Pardini, Luca Roccatagliata, Andrea Rossi, Angelo Schenone

Research output: Contribution to journalArticlepeer-review

Abstract

The Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurological disorder characterized by progressive pontobulbar palsy, sensorineural deafness and mixed spinal and upper motor neuropathy. Mutations in the C20orf54 gene have been linked to the disease and recently we reported the first Italian case of a BVVLS family with an intriguing C20orf54 genotype. However, the pathomechanisms underlying BVVLS are still unknown. Here we present the particular disease course with partial response to immunosuppressive therapy of our BVVLS patient for whom we hypothesize that dysimmune factors may have played a role in disease physiopathology.

Original languageEnglish
Pages (from-to)141-144
Number of pages4
JournalAmyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Volume15
Issue number1-2
DOIs
Publication statusPublished - 2014

Keywords

  • Brown-Vialetto-Van Laere syndrome
  • C20orf54 gene
  • Cranial neuropathy
  • Genetics
  • Sensorineural deafness

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Fingerprint Dive into the research topics of 'Brown-vialetto-van laere syndrome: Clinical and neuroradiological findings of a genetically proven patient'. Together they form a unique fingerprint.

Cite this