Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy; Institute of Neurology, Department of Medical and Surgical Sciences, University Magna Graecia, Catanzaro, Italy.
Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy.
Neurobiol Aging. 2020 Sep;93:143.e5-143.e7. doi: 10.1016/j.neurobiolaging.2020.04.006. Epub 2020 Apr 15.
DCTN1 encodes the largest subunit of dynactin complex essential in the retrograde axonal transport and cytoplasmic transport of vesicles; mutations in DCTN1 have been reported predominantly in individuals with Perry syndrome and, recently, in patients with progressive supranuclear palsy. Our genetic screening of DCTN1 in 79 patients with progressive supranuclear palsy, 100 patients with multiple system atrophy, and 28 patients with dementia with Lewy bodies from Italy revealed only synonymous and intronic variants, suggesting that DCTN1 mutations do not have a key role in the development of atypical parkinsonism in the Italian population.
DCTN1 编码动力蛋白激活蛋白复合物的大亚基，该复合物对于囊泡的逆行轴突运输和细胞质运输至关重要；DCTN1 的突变主要见于 Perry 综合征患者，最近也见于进行性核上性麻痹患者。我们对来自意大利的 79 例进行性核上性麻痹患者、100 例多系统萎缩患者和 28 例路易体痴呆患者的 DCTN1 进行了基因筛查，仅发现同义突变和内含子变异，提示 DCTN1 突变在意大利人群中并非非典型帕金森病发展的关键因素。
