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

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
Pages (from-to)121-125
Number of pages5
JournalNeurogenetics
Volume11
Issue number1
DOIs
StatePublished - Feb 2010

Keywords

  • GBA
  • Glucocerebrosidase
  • Initial symptoms
  • LRRK2
  • Parkinson's disease

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