LRRK2 and GBA mutations differentially affect the initial presentation of Parkinson disease

被引：72

作者：

Gan-Or, Z. ^{[1
,3
]}

Bar-Shira, A. ^{[1
]}

Mirelman, A. ^{[2
]}

Gurevich, T. ^{[2
,3
]}

Kedmi, M. ^{[1
]}

Giladi, N. ^{[2
,3
]}

Orr-Urtreger, A. ^{[1
,3
]}

机构：

[1] Tel Aviv Sourasky Med Ctr, Genet Inst, IL-64239 Tel Aviv, Israel

[2] Tel Aviv Sourasky Med Ctr, Dept Neurol, Parkinson Ctr, Movement Disorders Unit, IL-64239 Tel Aviv, Israel

[3] Tel Aviv Univ, Sackler Fac Med, IL-69978 Tel Aviv, Israel

来源：

NEUROGENETICS | 2010年 / 11卷 / 01期

关键词：

Parkinson's disease; Initial symptoms; GBA; Glucocerebrosidase; LRRK2; EMERGING PATHWAYS; GAUCHER-DISEASE; ALPHA-SYNUCLEIN; G2019S MUTATION; ASHKENAZI JEWS; PHENOTYPE; DEGRADATION; GENOTYPE; ONSET; DEATH;

D O I：

10.1007/s10048-009-0198-9

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学];

摘要：

GBA and LRRK2 mutations increase susceptibility to Parkinson disease (PD), which is characterized by various disabling symptoms. An extended cohort of 600 Ashkenazi PD patients was screened for the LRRK2 G2019S and for eight GBA mutations. Reported initial symptoms were compared between three genotypic groups of patients: carriers of GBA mutations, carriers of LRRK2 G2019S mutation, and non-carriers. More LRRK2 G2019S carriers reported muscle stiffness (rigidity, p = 0.007) and balance disturbances (p = 0.008), while more GBA mutation carriers reported slowness (bradykinesia, p = 0.021). These results suggest distinct effects of LRRK2 or GBA mutations on the initial symptoms of PD.

引用

页码：121 / 125

页数：5

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