TY - JOUR
T1 - Brown-vialetto-van laere syndrome
T2 - Clinical and neuroradiological findings of a genetically proven patient
AU - Bandettini Di Poggio, Monica
AU - Monti Bragadin, Margherita
AU - Reni, Lizia
AU - Doria-Lamba, Laura
AU - Cereda, Cristina
AU - Pardini, Matteo
AU - Roccatagliata, Luca
AU - Rossi, Andrea
AU - Schenone, Angelo
PY - 2014
Y1 - 2014
N2 - 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.
AB - 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.
KW - Brown-Vialetto-Van Laere syndrome
KW - C20orf54 gene
KW - Cranial neuropathy
KW - Genetics
KW - Sensorineural deafness
UR - http://www.scopus.com/inward/record.url?scp=84895549390&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84895549390&partnerID=8YFLogxK
U2 - 10.3109/21678421.2013.837931
DO - 10.3109/21678421.2013.837931
M3 - Article
C2 - 24079556
AN - SCOPUS:84895549390
VL - 15
SP - 141
EP - 144
JO - Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
JF - Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
SN - 2167-8421
IS - 1-2
ER -