Article
Mutation screening of PLA2G6 in Japanese patients with early onset dystonia-parkinsonism.
Journal of neural transmission (Vienna, Austria : 1996) - 1 Apr 2017
Yamashita Chikara, Funayama Manabu, Li Yuanzhe, Yoshino Hiroyo, Yamada Hitoshi, Seino Yusuke, Tomiyama Hiroyuki, Hattori Nobutaka
Abstract excerpt
A recessive mutation in PLA2G6, which is known to cause infantile neuroaxonal dystrophy (INAD) and neurodegeneration associated with brain iron accumulation (NBIA), has recently been shown to be responsible for PARK14-linked dystonia-parkinsonism. To study the frequency of PLA2G6 mutations, including those caused by gene rearrangement in patients with parkinsonism, we performed direct sequencing and investigated...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.