Journal article
Motor and nonmotor heterogeneity of LRRK2-related and idiopathic Parkinson's disease
Movement disorders, Vol.31(8), pp.1192-1202
08/2016
DOI: 10.1002/mds.26614
PMID: 27091104
Abstract
Parkinson's disease (PD) associated with LRRK2 mutations has been described as similar to idiopathic PD with minor clinical differences. No study has compared the clinical features of LRRK2-associated PD due to different mutations. The objective of this study was to compare LRRK2-associated PD due to G2019S and G2385R mutations and to compare each to idiopathic PD.
Sites within the international LRRK2 Cohort Consortium undertook family-based, community-based, or clinic-based studies to gather clinical data on manifesting carriers and patients with idiopathic PD.
Five hundred sixteen PD patients with the G2019S mutation, 199 with the G2385R mutation, and 790 patients with idiopathic PD were included in the data set. Adjusted for age, sex, disease duration, and levodopa-equivalent daily dose, mean MDS-UPDRS part II or III scores and the frequency of motor fluctuations were higher in the G2385R mutation carriers than in either the G2019S mutation carriers or idiopathic PD patients. G2019S mutation carriers had significantly lower UPDRS part III scores than idiopathic PD patients. Both G2019S and G2385R mutation carriers had a higher proportion of the postural instability gait disorder phenotype compared with idiopathic PD patients. LRRK2 G2019S PD patients had better UPSIT scores and lower Geriatric Depression Scale scores than idiopathic PD patients in adjusted analyses.
G2385R and G2019S PD appear to have motor differences that may be explained by contrasting local treatment or measurement practices or differences in the biology of the disease. Longitudinal studies should evaluate whether progression is faster in G2385R mutation carriers compared with G2019S PD or idiopathic PD. © 2016 International Parkinson and Movement Disorder Society.
Details
- Title: Subtitle
- Motor and nonmotor heterogeneity of LRRK2-related and idiopathic Parkinson's disease
- Creators
- Connie Marras - Toronto Western Hospital Morton and Gloria Shulman Movement Disorders Centre and the Edmond J. Safra Program in Parkinson's Disease, University of Toronto, Toronto, Ontario, CanadaRoy N Alcalay - Department of Neurology, Columbia University Medical Center, New York, New York, USAChelsea Caspell-Garcia - Department of Biostatistics, College of Public Health, University of Iowa, Iowa City, Iowa, USAChristopher Coffey - Department of Biostatistics, College of Public Health, University of Iowa, Iowa City, Iowa, USAPiu Chan - Departments of Neurology and Neurobiology, Xuanwu Hospital of Capital Medical University, ChinaJohn E Duda - Parkinson's Disease Research, Education and Clinical Center, Michael J. Crescenz VA Medical Center and Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USAMaurizio F Facheris - The Michael J. Fox Foundation for Parkinson's Research, New York, New York, USARubén Fernández-Santiago - Laboratory of Neurodegenerative Disorders, Department of Neurology, Hospital Clínic of Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, and the Centre for Networked Biomedical Research on Neurodegenerative Diseases (CIBERNED), Madrid, SpainJavier Ruíz-Martínez - Department of Neurology (Movement Disorders Unit), Hospital Universitario Donostia. Biodonostia Research Institute, Neurosciences area. San Sebastián, Guipúzcoa, Spain, and CIBERNED, Carlos III Health Institute, Madrid, SpainTiago Mestre - Parkinson's Disease and Movement Disorder Centre, Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa Hospital Research Institute, University of Ottawa, Ottawa, Ontario, CanadaRachel Saunders-Pullman - Department of Neurology, Mount Sinai Beth Israel Medical Center and Icahn School of Medicine at Mount Sinai, New York, New York, USAClaustre Pont-Sunyer - Parkinson's Disease and Movement Disorders Unit, Neurology Service, Hospital Clinic de Barcelona, Universitat de Barcelona, Institutd'InvestigacionsBiomediquesAugust Pi I Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Barcelona, SpainEduardo Tolosa - Parkinson's Disease and Movement Disorders Unit, Neurology Service, Hospital Clinic de Barcelona, Universitat de Barcelona, Institutd'InvestigacionsBiomediquesAugust Pi I Sunyer (IDIBAPS), Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Barcelona, SpainBjorg Waro - Department of Neurology, Norwegian University of Science and Technology, Trondheim, NorwayLRRK2 Cohort Consortium
- Resource Type
- Journal article
- Publication Details
- Movement disorders, Vol.31(8), pp.1192-1202
- Publisher
- United States
- DOI
- 10.1002/mds.26614
- PMID
- 27091104
- ISSN
- 1531-8257
- eISSN
- 1531-8257
- Grant note
- DOI: 10.13039/100000864, name: Michael J. Fox Foundation for Parkinson's Research
- Language
- English
- Date published
- 08/2016
- Academic Unit
- Biostatistics
- Record Identifier
- 9983997457102771
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