Article
Phenotypic spectrum of patients with PLA2G6 mutation and PARK14-linked parkinsonism.
Neurology - 12 Oct 2010
Yoshino H, Tomiyama H, Tachibana N, Ogaki K, Li Y, Funayama M, Hashimoto T, Takashima S, Hattori N
Abstract excerpt
BACKGROUND: PLA2G6 is the causative gene for infantile neuroaxonal dystrophy, neurodegeneration associated with brain iron accumulation, and Karak syndrome. Based on previous reports, patients with PLA2G6 mutations could show axonal dystrophy, dystonia, dementia, and cerebellar signs. Recently, PLA2G6 was also reported as the causative gene for early-onset PARK14-linked dystonia-parkinsonism. METHODS: To clarify...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.