Ataxia and Action Myoclonus Related to Novel Mutations in ATP13A2 Gene
Sign Up to like & getrecommendations! Published in 2021 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13260
Abstract: Mutations in the ATP13A2 gene have been causally associated with Kufor-Rakeb syndrome and later with neuronal ceroid lipofuscinosis and a complicated form of hereditary spastic paraplegia (SPG78). The ATP13A2 gene encodes a lysosomal 5Ptype ATPase… read more here.
Keywords: atp13a2 gene; ataxia; action myoclonus; myoclonus ... See more keywords
The Roles of ATP13A2 Gene Mutations Leading to Abnormal Aggregation of α-Synuclein in Parkinson’s Disease
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cellular Neuroscience"
DOI: 10.3389/fncel.2022.927682
Abstract: Parkinson’s disease (PD) is the second most common neurodegenerative disease. PARK9 (also known as ATP13A2) is recognized as one of the key genes that cause PD, and a mutation in this gene was first discovered… read more here.
Keywords: atp13a2 gene; abnormal aggregation; disease; aggregation synuclein ... See more keywords