Article
Genetic Variations and Neuropathologic Features of Patients with PRKN Mutations.
Movement disorders : official journal of the Movement Disorder Society - 1 Jul 2021
Seike Naohiko, Yokoseki Akio, Takeuchi Ryoko, Saito Kento, Miyahara Hiroaki, Miyashita Akinori, Ikeda Tetsuhiko, Aida Izumi, Nakajima Takashi, Kanazawa Masato, Wakabayashi Masatoshi, Toyoshima Yasuko, Takahashi Hitoshi, Matsumoto Riki, Toda Tatsushi, Onodera Osamu, Ishikawa Atsushi, Ikeuchi Takeshi, Kakita Akiyoshi
Abstract excerpt
BACKGROUND: Mutations in PRKN are the most common cause of autosomal recessive juvenile parkinsonism. The objective of this study was to investigate the association between genotype and pathology in patients with PRKN mutations. METHODS: We performed a sequence and copy number variation analysis of PRKN, mRNA transcripts, Parkin protein expression, and neuropathology in 8 autopsied patients. RESULTS: All the...
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