Article
A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient.
Neurobiology of aging - 1 Mar 2011
Corrado Lucia, Carlomagno Yari, Falasco Luca, Mellone Simona, Godi Michela, Cova Emanuela, Cereda Cristina, Testa Lucia, Mazzini Letizia, D'Alfonso Sandra
Abstract excerpt
Motor neurons in amyotrophic lateral sclerosis (ALS) are characterized by the presence of inclusion bodies composed of intermediate filament (IF) proteins. Peripherin protein is as components of these inclusions and rare mutations in peripherin gene (PRPH) were identified in sporadic ALS cases. The aim of this study was to further define the spectrum of PRPH mutations in a cohort of 122 Italian ALS patients. We...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.