Phenotypic presentation of frontotemporal dementia with parkinsonism-chromosome 17 type P301S in a patient of Jewish-Algerian origin

被引：10

作者：

Werber, E ^{[1
]}

Klein, C ^{[1
]}

Grünfeld, J ^{[1
]}

Rabey, JM ^{[1
]}

机构：

[1] Assaf Harofeh Med Ctr, Dept Neurol, IL-70300 Zerifin, Israel

来源：

MOVEMENT DISORDERS | 2003年 / 18卷 / 05期

关键词：

chromosome; 17; P301S mutation;

D O I：

10.1002/mds.10401

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A 39-year-old old Jewish woman of Algerian origin developed a rapidly progressive neurocognitive disorder characterized by asymmetric rigidity, spasticity with bilateral Babinski's sign, bradykinesia, altered speech that progressed to mutism, and severe bradyphrenia. She partially responded to levodopa. The family history revealed 4 affected first-degree relatives (3 had already died). Genetic studies carried out in the proband and her living affected sister showed a P301S mutation in chromosome 17. (C) 2003 Movement Disorder Society.

引用

页码：595 / 598

页数：4

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