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

Z. Gan-Or; A. Bar-Shira; A. Mirelman; T. Gurevich; M. Kedmi; N. Giladi; A. Orr-Urtreger

doi:10.1007/s10048-009-0198-9

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

Z. Gan-Or, A. Bar-Shira, A. Mirelman, T. Gurevich, M. Kedmi, N. Giladi, A. Orr-Urtreger^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

69 Scopus citations

Abstract

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.

Original language	English
Pages (from-to)	121-125
Number of pages	5
Journal	Neurogenetics
Volume	11
Issue number	1
DOIs	https://doi.org/10.1007/s10048-009-0198-9
State	Published - Feb 2010

Keywords

GBA
Glucocerebrosidase
Initial symptoms
LRRK2
Parkinson's disease

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10.1007/s10048-009-0198-9

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title = "LRRK2 and GBA mutations differentially affect the initial presentation of Parkinson disease",

abstract = "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.",

keywords = "GBA, Glucocerebrosidase, Initial symptoms, LRRK2, Parkinson's disease",

author = "Z. Gan-Or and A. Bar-Shira and A. Mirelman and T. Gurevich and M. Kedmi and N. Giladi and A. Orr-Urtreger",

note = "Funding Information: This work was supported by grants from National Parkinson Foundation, Miami, FL, USA, the Tel Aviv Sourasky Medical Center Grant of Excellence and the Wolfson and Kahn Foundations. The assistance of Ilana Elroi, Shiran Levi, Chen Shifrin, and Orna Moore is acknowledged. The authors report no conflicts of interests. ",

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AU - Gurevich, T.

AU - Kedmi, M.

AU - Giladi, N.

AU - Orr-Urtreger, A.

N1 - Funding Information: This work was supported by grants from National Parkinson Foundation, Miami, FL, USA, the Tel Aviv Sourasky Medical Center Grant of Excellence and the Wolfson and Kahn Foundations. The assistance of Ilana Elroi, Shiran Levi, Chen Shifrin, and Orna Moore is acknowledged. The authors report no conflicts of interests.

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N2 - 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.

AB - 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.

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

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Keywords

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