Motor and non-motor features of Parkinson's disease in LRRK2 G2019S carriers versus matched controls
| Autor: | John J. Mieyal, William M. Johnson, Shu G. Chen, David E. Riley, I. Jung Feng, Ellen M. Walter, Curtis Tatsuoka, Harry Owusu-Dapaah, Christina M. Whitney, Steven A. Gunzler, Amy L. Wilson-Delfosse, Shivam Om Mittal |
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| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine Heterozygote medicine.medical_specialty Parkinson's disease Pilot Projects Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 Article 03 medical and health sciences 0302 clinical medicine Internal medicine Prevalence Humans Medicine Genetic Predisposition to Disease Family history Aged business.industry Montreal Cognitive Assessment Parkinson Disease medicine.disease Gait LRRK2 nervous system diseases Log-rank test Cross-Sectional Studies Phenotype 030104 developmental biology Neurology Jews Mutation Etiology Population study Female Neurology (clinical) business 030217 neurology & neurosurgery |
| Zdroj: | Journal of the Neurological Sciences. 388:203-207 |
| ISSN: | 0022-510X |
| Popis: | Introduction LRRK2 G2019S mutation carriers with Parkinson's disease (PD) have been generally indistinguishable from those with idiopathic PD, with the exception of variable differences in some motor and non-motor domains, including cognition, gait, and balance. LRRK2 G2019S is amongst the most common genetic etiologies for PD, particularly in Ashkenazi Jewish (AJ) populations. Methods This cross-sectional data collection study sought to clarify the phenotype of LRRK2 G2019S mutation carriers with PD. Primary endpoints were the Movement Disorder Society Unified Parkinson Disease Rating Scale (MDS-UPDRS) and Montreal Cognitive Assessment (MoCA). Other motor and non-motor data were also assessed. The Mann-Whitney U Test was utilized to compare LRRK2 G2019S carriers with PD (LRRK2+) with non-carrier PD controls who were matched for age, gender, education, and PD duration. Survival analyses and log rank tests were utilized to compare interval from onset of PD to development of motor and non-motor complications. Results We screened 251 subjects and 231 completed the study, of whom 9 were LRRK2+, including 7 AJ subjects. 22.73% of AJ subjects with a family history of PD (FH) and 12.96% of AJ subjects without a FH were LRRK2+. There were no significant differences between the 9 LRRK2+ subjects and 19 matched PD controls in MDS-UPDRS, MoCA, or other motor and non-motor endpoints. Conclusion Prevalence of the LRRK2 G2019S mutation in AJ and non-AJ subjects in our study population in Cleveland, Ohio was comparable to other clinical studies. There were no significant motor or non-motor differences between LRRK2+ PD and matched PD controls. |
| Databáze: | OpenAIRE |
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