Ontology highlight
ABSTRACT:
SUBMITTER: Paisan-Ruiz C
PROVIDER: S-EPMC3657696 | biostudies-literature | 2012 Apr
REPOSITORIES: biostudies-literature
Paisán-Ruiz Coro C Li Abi A Schneider Susanne A SA Holton Janice L JL Johnson Robert R Kidd Desmond D Chataway Jeremy J Bhatia Kailash P KP Lees Andrew J AJ Hardy John J Revesz Tamas T Houlden Henry H
Neurobiology of aging 20100721 4
The 2 major types of neurodegeneration with brain iron accumulation (NBIA) are the pantothenate kinase type 2 (PANK2)-associated neurodegeneration (PKAN) and NBIA2 or infantile neuroaxonal dystrophy (INAD) due to mutations in the phospholipase A2, group VI (PLA2G6) gene. We have recently demonstrated clinical heterogeneity in patients with mutations in the PLA2G6 gene by identifying a poorly defined subgroup of patients who present late with dystonia and parkinsonism. We report the clinical and ...[more]