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Abstract #3657

Clinico-genetic-anatomical comparisons of  paroxysmal kinesigenic dyskinesia with and without PRRT2 mutations

Lei Li1, Xueling Suo1, and Qiyong Gong1

1Department of Radiology, Huaxi MR Research Center, Chengdu, China

Paroxysmal kinesigenic dyskinesia (PKD) is a rare movement disorder characterized by sudden, brief attacks of involuntary movements. This study aims to detect the topological organization of white matter structural connectivity in PKD with and without PRRT2 mutations using graph theoretical approaches. Compared with non-PRRT2 mutation carriers, PRRT2 mutations carriers are significantly associated with a younger age of onset, a complicated form of PKD, combined phenotypes of dystonia and chorea, and a tendency for a family history of PKD in our population, as well as showed topological trends for randomization.

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