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- Title
Progress in the research of genetics and clinical manifestation of paroxysmal kinesigenic dyskinesia.
- Authors
HUANG Xiao-jun; CAO Li; CHEN Sheng-di
- Abstract
Paroxysmal kinesigenic dyskinesia (PKD) is a disorder characterized by recurrent and brief attacks that are induced by sudden voluntary movement with highly clinical and genetic heterogeneity. Familial PKD are mostly autosomal dominant inherited and proline-rich transmembrare protein 2 (PRRT2) gene has been identified as the causative gene for PKD. So far 56 mutations have been documented and most of them are nonsense ones. No obvious genotype - phenotype correlation has been observed and the function of PRRT2 is still unclear, but the interaction between PRRT2 and synaptosomal-associated protein 25 (SNAP25) will shed the light on the research of PKD mechanism.
- Subjects
GENETICS; NEUROSURGERY; MOVEMENT disorders; NEUROLOGY; SYMPTOMS; DIAGNOSIS
- Publication
Chinese Journal of Contemporary Neurology & Neurosurgery, 2013, Vol 13, Issue 5, p457
- ISSN
1672-6731
- Publication type
Article
- DOI
10.3969/j.issn.1672-6731.2013.05.019