Genetic analysis of LRRK2 P755L variant in Caucasian patients with Parkinson's disease

Hao Deng, Weidong Le, Maosheng Huang, Wenjie Xie, Tianghong Pan, Joseph Jankovic

Research output: Contribution to journalArticle

10 Scopus citations

Abstract

Parkinson's disease (PD) is the second most common neurodegenerative disease with major clinical features of bradykinesia, rigidity, resting tremor, and postural instability. Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have been identified both in familial and sporadic cases of PD. Recently, a P755L variant in the LRRK2 gene has been found to be responsible for 2% of Chinese patients with sporadic PD. To evaluate the frequency of the LRRK2 P755L variant in North American Caucasian patients with PD, we screened 426 PD patients and 37 additional patients with the combination of PD and essential tremor (ET) from our Parkinson Disease Center and Movement Clinic at Baylor College of Medicine. No P755L variant was found in our PD cohort. Therefore, we conclude that LRKK2 P755L variant is a rare cause of Caucasian PD and has no diagnostic utility in genetic testing of this population of patients.

Original languageEnglish (US)
Pages (from-to)104-107
Number of pages4
JournalNeuroscience Letters
Volume419
Issue number2
DOIs
StatePublished - May 29 2007

Keywords

  • Caucasian
  • P755L
  • Parkinson's disease
  • The leucine-rich repeat kinase 2 gene
  • Variant

ASJC Scopus subject areas

  • Neuroscience(all)

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