Article
L116 Deletion in CSPα Promotes α-Synuclein Aggregation and Neurodegeneration.
Molecular neurobiology - 1 Jan 2024
Guo Tao, Xiong Jing, Feng Hongyan, Bu Lihong, Xiao Tingting, Zhou Lingyan, He Juanfeng, Deng Min, Liu Yan, Zhang Zhaohui, Zhang Zhentao
Abstract excerpt
Parkinsonism is a clinical syndrome that is caused by Parkinson's disease (PD) and other neurodegenerative diseases. Here, we report a patient who exhibited progressive parkinsonism, epilepsy, and cognitive impairment and was diagnosed with adult-onset neuronal ceroid lipofuscinoses (ANCLs). The patient carries a mutation (p.Leu116 del) in the DNAJC5 gene that encodes cysteine string protein (CSPα). Since the...
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