G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort.

Movement disorders : official journal of the Movement Disorder Society ·Vol. 20 ·No. 12 ·2005-12-00 ·Pages 1653-5

Bras JM, Guerreiro RJ, Ribeiro MH, Januario C, Morgadinho A, Oliveira CR, Cunha L, Hardy J, Singleton A

Abstract

LRRK2 mutations have recently been described in families with Parkinson's disease. Here we show that one of them (G2019S) is present in 6% (7 of 124) unrelated cases of disease in a clinic-based sample series from central Portugal, but not present in 126 controls from the same population. Thus, LRRK2 mutations appear to be a common cause of typical Parkinson's disease and as such will alter clinical practice.

MeSH Terms

Adult Aged Aged, 80 and over Cohort Studies DNA Mutational Analysis Family Health Female Genetic Predisposition to Disease Glycine/genetics Humans Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 Male Middle Aged Mutation/genetics Parkinson Disease/genetics Portugal/epidemiology Protein Serine-Threonine Kinases/genetics Serine/genetics

Chemicals

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

Authors & Affiliations

9 authors, click to expand affiliations / ORCID

Bras Jose Miguel

Neurology Service, Coimbra University Hospital, Coimbra, Portugal.

Guerreiro Rita Joao

Ribeiro Maria Helena

Januario Cristina

Morgadinho Ana

Oliveira Catarina Resende

Cunha Luis

Hardy John

Singleton Andrew

Article Info

Journal

Movement disorders : official journal of the Movement Disorder Society

Abbr.

Mov Disord

ISSN

0885-3185

DOI

10.1002/mds.20682

Published

2005-12-00

Pages

1653-5

Language

English

Region

United States

NLM ID

8610688

Subset

External Links

PubMed source DOI: 10.1002/mds.20682 View journal details

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G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort.

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