Brown-Vialetto-Van Laere syndrome: Clinical and neuroradiological findings of a genetically proven patient. Issue 1 (March 2014)

• Record Type: Journal Article
• Authors: Bandettini Di Poggio, Monica; Monti Bragadin, Margherita; Reni, Lizia; Doria-Lamba, Laura; Cereda, Cristina; Pardini, Matteo; Roccatagliata, Luca; Rossi, Andrea; Schenone, Angelo
• Is Part Of: Amyotrophic lateral sclerosis and frontotemporal degeneration. Volume 15:Issue 1/2(2014)
• Page Start: 141
• Page End: 144
• Publication Date: 2014-03
• Subjects: 616.839
• DOI: 10.3109/21678421.2013.837931
• Languages: English
• ISSNs: 2167-8421

Abstract

<abstract> <title>Abstract</title> <p>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 <italic>C20orf54</italic> gene have been linked to the disease and recently we reported the first Italian case of a BVVLS family with an intriguing <italic>C20orf54</italic> 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.</p> </abstract>