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PMID: 16247070 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Analysis of LRRK2 functional domains in nondominant Parkinson disease.

Neurology ·Vol. 65 ·No. 8 ·2005-10-25 ·Pages 1319-21

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

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.

MeSH Terms

Adult Age of Onset Aged Aged, 80 and over Amino Acid Sequence/genetics Amino Acid Substitution/genetics DNA Mutational Analysis Exons/genetics Female Genetic Predisposition to Disease/genetics Genetic Testing Genotype Humans Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 Male Middle Aged Mutation/genetics Parkinson Disease/ethnology,genetics,metabolism Phenotype Point Mutation/genetics Protein Serine-Threonine Kinases/chemistry,genetics Protein Structure, Tertiary/genetics Racial Groups Sex Distribution

Chemicals

LRRK2 protein, human Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 Protein Serine-Threonine Kinases

Authors & Affiliations

16 authors, click to expand affiliations / ORCID

Skipper L

Department of Population Genetics, Genome Institute of Singapore, Singapore.

Shen H

Chua E

Bonnard C

Kolatkar P

Tan L C S

Jamora R D

Puvan K

Puong K Y

Zhao Y

Pavanni R

Wong M C

Yuen Y

Farrer M

Liu J J

Tan E K

Article Info

Journal

Neurology

Abbr.

Neurology

ISSN

1526-632X

DOI

10.1212/01.wnl.0000180517.70572.37

Published

2005-10-25

Pages

1319-21

Language

English

Region

United States

NLM ID

0401060

Subset

External Links

PubMed source DOI: 10.1212/01.wnl.0000180517.70572.37 View journal details

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