Brown-Vialetto-Van Laere syndrome: Clinical and neuroradiological findings of a genetically proven patient

• Published in: Amyotrophic lateral sclerosis and frontotemporal degeneration Vol. 15; no. 1-2; pp. 141 - 144
• Main Authors: Bandettini Di Poggio, Monica, Monti Bragadin, Margherita, Reni, Lizia, Doria-Lamba, Laura, Cereda, Cristina, Pardini, Matteo, Roccatagliata, Luca, Rossi, Andrea, Schenone, Angelo
• Format: Journal Article
• Language: English
• Published: England Informa Healthcare 01.03.2014
• Subjects: Brain - pathology; Bulbar Palsy, Progressive - diagnosis; Bulbar Palsy, Progressive - genetics; Bulbar Palsy, Progressive - physiopathology; Bulbar Palsy, Progressive - therapy; Child; Evoked Potentials, Auditory, Brain Stem - physiology; Hearing Loss, Sensorineural - diagnosis; Hearing Loss, Sensorineural - genetics; Hearing Loss, Sensorineural - physiopathology; Hearing Loss, Sensorineural - therapy; Humans; Immunoglobulins, Intravenous - therapeutic use; Magnetic Resonance Imaging; Male; Membrane Transport Proteins - genetics; Mutation - genetics; Neural Conduction
• ISSN: 2167-8421; 2167-9223
• DOI: 10.3109/21678421.2013.837931

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.