Article
Lack of RAB39B mutations in early-onset and familial Parkinson's disease in a Taiwanese cohort.
Neurobiology of aging - 1 Feb 2017
Lin Hsien-Han, Wu Ruey-Meei, Lin Han-I, Chen Meng-Ling, Tai Chun-Hwei, Lin Chin-Hsien
Abstract excerpt
Loss of function mutations in RAB39B were recently linked to X-linked recessive early-onset Parkinsonism with variable degrees of intellectual dysfunction. Postmortem examination of the brain biopsy from a patient carrying the gene deletion revealed widespread α-synuclein pathology. However, subsequent analyses reported conflict results to replicate the role of RAB39B mutations in patients with early-onset...
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