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Motor phenotype of LRRK2 G2019S carriers in Early Onset Parkinson Disease

Identifieur interne : 000148 ( Pmc/Corpus ); précédent : 000147; suivant : 000149

Motor phenotype of LRRK2 G2019S carriers in Early Onset Parkinson Disease

Auteurs : Rn Alcalay ; H. Mejia ; M Tang ; L. Rosado ; M. Verbitsky ; S. Kisselev ; B. Ross ; Ed Louis ; C. Comella ; A. Colcher ; D. Jennings ; M. Nance ; S. Bressman ; Wk Scott ; C. Tanner ; S. Mickel ; H. Andrews ; C. Waters ; S. Fahn ; L. Cote ; S. Frucht ; B. Ford ; M. Rezak ; K. Novak ; Jh Friedman ; R. Pfeiffer ; L. Marsh ; B. Hiner ; A. Siderowf ; E. Caccappolo ; R. Ottman ; Ln Clark ; K. Marder

Source :

RBID : PMC:2837584

Abstract

Objective

To determine the motor phenotype of LRRK2 G2019S mutation carriers

Background

LRRK2 mutation carriers were previously reported to manifest the tremor-dominant (TD) motor phenotype, which has been associated with slower motor progression and less cognitive impairment compared to the postural instability gait difficulty (PIGD) phenotype.

Design

Cross sectional observational study

Setting

13 movement disorders centers

Participants

925 Early Onset Parkinson Disease (EOPD) cases defined as age at onset (AAO) ≤50.

Main Outcome Measures

LRRK2 mutation status and PD motor phenotype: TD or PIGD

Methods

Demographic information, family history of PD (FHPD), and the Unified Parkinson Disease Rating Scale (UPDRS) were collected on all participants. DNA samples were genotyped for LRRK2 mutations (G2019S, I2020T, R1441C and Y1699C). Logistic regression was used to examine associations of G2019S mutation status with motor phenotype adjusting for disease duration, Ashkenazi Jewish (AJ) ancestry, levodopa dose, and FHPD.

Results

34 cases (3.7%) (14 previously reported) were G2019S carriers. No other mutations were found. Carriers were more likely to be AJ (55.9% vs. 11.9% p<0.001), but did not significantly differ in any other demographic or disease characteristics. Carriers had a lower tremor score (p=0.026) and were more likely to have a PIGD phenotype (92.3% vs. 58.9% p=0.003). The association of the G2019S mutation with PIGD phenotype remained after controlling for disease duration and AJ (OR= 17.7, p< 0.001).

Conclusion

EOPD G2019S LRRK2 carriers are more likely to manifest the PIGD phenotype, which may have implications for disease course.


Url:
DOI: 10.1001/archneurol.2009.267
PubMed: 20008657
PubMed Central: 2837584

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