Article
Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.
European journal of neurology - 1 Jan 2015
Romani M, Kraoua I, Micalizzi A, Klaa H, Benrhouma H, Drissi C, Turki I, Castellana S, Mazza T, Valente E M, Gouider-Khouja N
Abstract excerpt
BACKGROUND AND PURPOSE: Mutations in the PLA2G6 gene are causative of PLA2G6-associated neurodegeneration (PLAN), a spectrum of neurodegenerative conditions including infantile, childhood and adult onset forms. METHODS: Seventeen North African patients with a clinical suspicion of infantile-onset PLAN underwent clinical, neurophysiological and neuroimaging examinations, and PLA2G6 sequencing. Haplotype analysis...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.