Blink amplitude but not saccadic hypometria indicates carriers of Parkin mutations

被引：7

作者：

Helmchen, C.

Schwekendiek, A.

Pramstaller, P. P.

Hedrich, K.

Klein, C.

Rambold, H.

机构：

[1] Med Univ Lubeck, Dept Neurol, D-23538 Lubeck, Germany

[2] Med Univ Lubeck, Dept Human Genet, D-23538 Lubeck, Germany

[3] Gen Reg Hosp Bolzano, Dept Neurol, Bolzano, Italy

[4] EURAC Res, Inst Med Genet, Bolzano, Italy

来源：

JOURNAL OF NEUROLOGY | 2006年 / 253卷 / 08期

关键词：

Parkinson's disease; Parkin; saccades; blink reflex;

D O I：

10.1007/s00415-006-0168-1

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We investigated saccades, eyelid blinks, and their interaction in symptomatic (n=22) and asymptomatic (n=31) subjects with (n=19) and without (n=34) Parkin mutations. Saccadic hypometria was correlated with clinical symptoms of Parkinson's disease, irrespective of mutational status. By contrast, blink amplitude was increased in carriers of Parkin mutations independent of their clinical status. Saccade main sequence and blink effects on saccades were normal. We propose that increased blink amplitude may serve as an endophenotype in carriers of Parkin mutations.

引用

页码：1071 / 1075

页数：5

共 23 条

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