Analysis of LRRK2 functional domains in nondominant Parkinson disease.

Abstract:

:A comprehensive sequence analysis of 29 exons that code for the functional domains of LRRK2 in 160 nondominant Parkinson disease (PD) patients was performed. Novel variant screening in a further 470 sporadic PD patients and 630 controls revealed two novel variants (R1067Q and IVS33 + 6 T>A), which are likely to be pathogenic in five patients. One patient presented initially with a typical essential tremor phenotype, expanding the phenotypic spectrum of LRRK2 mutations.

journal_name

Neurology

journal_title

Neurology

authors

Skipper L,Shen H,Chua E,Bonnard C,Kolatkar P,Tan LC,Jamora RD,Puvan K,Puong KY,Zhao Y,Pavanni R,Wong MC,Yuen Y,Farrer M,Liu JJ,Tan EK

doi

10.1212/01.wnl.0000180517.70572.37

subject

Has Abstract

pub_date

2005-10-25 00:00:00

pages

1319-21

issue

8

eissn

0028-3878

issn

1526-632X

pii

65/8/1319

journal_volume

65

pub_type

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