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• W1992632425 abstract "<h3>Importance</h3> Mutations in leucine-rich repeat kinase 2 (<i>LRRK2</i>) are the most common cause of genetic Parkinson disease (PD) known to date. The clinical features of manifesting<i>LRRK2</i>mutation carriers are generally indistinguishable from those of patients with sporadic PD. However, some PD cases associated with<i>LRRK2</i>mutations lack Lewy bodies (LBs), a neuropathological hallmark of PD. We investigated whether the presence or absence of LBs correlates with different clinical features in<i>LRRK2</i>-related PD. <h3>Observations</h3> We describe genetic, clinical, and neuropathological findings of 37 cases of<i>LRRK2</i>-related PD including 33 published and 4 unpublished cases through October 2013. Among the different mutations, the<i>LRRK2</i>p.G2019S mutation was most frequently associated with LB pathology. Nonmotor features of cognitive impairment/dementia, anxiety, and orthostatic hypotension were correlated with the presence of LBs. In contrast, a primarily motor phenotype was associated with a lack of LBs. <h3>Conclusions and Relevance</h3> To our knowledge, this is the first report of clinicopathological correlations in a series of<i>LRRK2</i>-related PD cases. Findings from this selected group of patients with PD demonstrated that parkinsonian motor features can occur in the absence of LBs. However, LB pathology in<i>LRRK2</i>-related PD may be a marker for a broader parkinsonian symptom complex including cognitive impairment." @default.
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• W1992632425 date "2015-01-01" @default.
• W1992632425 modified "2023-10-18" @default.
• W1992632425 title "Clinical Correlations With Lewy Body Pathology in<i>LRRK2</i>-Related Parkinson Disease" @default.
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• W1992632425 doi "https://doi.org/10.1001/jamaneurol.2014.2704" @default.
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