rs63750756, MAPT

N. diseases: 23
Disease: Hyperkinesia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hyperkinesia
CUI: C3887506
Disease: Hyperkinesia
0.010 GeneticVariation BEFREE We used electrophysiological methods to study the hyperkinetic movement disorders in a pallido-ponto-nigral degeneration (PPND) family, which harbors the N279K tau gene mutation.Our purpose was to: (1). characterize the tremor patterns, (2). characterize the myoclonus physiology, (3). determine whether electrophysiology can detect abnormalities in asymptomatic cases. 12573870 2003