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Neurobiol Aging. 2014 May;35(5):1125-31. doi: 10.1016/j.neurobiolaging.2013.11.015. Epub 2013 Nov 22.

Comparative study of Parkinson's disease and leucine-rich repeat kinase 2 p.G2019S parkinsonism.

Author information

1
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada. Electronic address: jtrinh@can.ubc.ca.
2
Mongi Ben Hamida National Institute of neurology, Tunis, Tunisia.
3
Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
4
PRN, Basingstoke, Hants, UK.
5
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.

Abstract

Parkinson disease is a progressive neurodegenerative disease for which leucine-rich repeat kinase 2 (LRRK2 carriers) p.G2019S confers substantial genotypic and population attributable risk. With informed consent, we have recruited clinical data from 778 patients from Tunisia (of which 266 have LRRK2 parkinsonism) and 580 unaffected subjects. Motor, autonomic, and cognitive assessments in idiopathic Parkinson disease and LRRK2 patients were compared with regression models. The age-associated cumulative incidence of LRRK2 parkinsonism was also estimated using case-control and family-based designs. LRRK2 parkinsonism patients had slightly less gastrointestinal dysfunction and rapid eye movement sleep disorder. Overall, disease penetrance in LRRK2 carriers was 80% by 70 years but women become affected a median 5 years younger than men. Idiopathic Parkinson disease patients with younger age at diagnosis have slower disease progression. However, age at diagnoses does not predict progression in LRRK2 parkinsonism. LRRK2 p.G2019S mutation is a useful aid to diagnosis and modifiers of disease in LRRK2 parkinsonism may aid in developing therapeutic targets.

KEYWORDS:

Genetics; LRRK2 parkinsonism; Parkinson disease; Penetrance

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