Motor and non-motor features of Parkinson's disease in LRRK2 G2019S carriers versus matched controls

Gunzler, Steven A.; Riley, David E.; Chen, Shu G.; Tatsuoka, Curtis; Johnson, William M.; Mieyal, John J.; Walter, Ellen M.; Whitney, Christina M.; Feng, I‐Jung; Owusu-Dapaah, Harry; Mittal, Shivam Om; Wilson-Delfosse, Amy L.

doi:10.1016/j.jns.2018.03.025

Cited by 14 publications

(7 citation statements)

References 14 publications

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“…The studies identified in this review confirm prior findings of especially high prevalence of the G2019S variant among patients with PD who are Ashkenazi Jewish (14.8%, based on estimates from the United States [5,[27][28][29] and Israel [30,31]) and Berber Arab (35.9%, based on estimates from two studies [7,18] spanning Morocco, Tunisia, Algeria, Libya, and France).…”

Section: G2019ssupporting

confidence: 82%

Prevalence of ten LRRK2 variants in Parkinson's disease: A comprehensive review

Simpson

Vinikoor-Imler

Nassan

et al. 2022

Parkinsonism & Related Disorders

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Section: G2019ssupporting

confidence: 82%

Prevalence of ten LRRK2 variants in Parkinson's disease: A comprehensive review

Simpson

Vinikoor-Imler

Nassan

et al. 2022

Parkinsonism & Related Disorders

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“…The response to levodopa therapy was similar within these two groups: 88% of LRRK2 mutated patients showed a positive response, compared with 83% of IPD patients [16]. Concerning the other symptoms, such as depression, hyposmia, urinary urgency or incontinence, motor fluctuations and dyskinesia, no difference was observed between these two groups [17][18][19][20][21]. Lastly, no atypical signs have been reported in patients with LRRK2 mutations [22].…”

Section: Lrrk2 (Park8)mentioning

confidence: 72%

The genetic landscape of Parkinson's disease

2018

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“…Some reports indicate greater cognitive deficits and/or progression in familial forms such as SNCA and GBA, 73,74 whereas others show the opposite [75][76][77] or no clinical differences. 78,79 Future studies are needed to better delineate any clinical differences between IPD and FPD.…”

Section: Discussionmentioning

confidence: 99%

Global and Regional Changes in Perivascular Space in Idiopathic and Familial Parkinson's Disease

et al. 2021

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Background The glymphatic system, including the perivascular space (PVS), plays a critical role in brain homeostasis. Although mounting evidence from Alzheimer's disease has supported the potential role of PVS in neurodegenerative disorders, its contribution in Parkinson's disease (PD) has not been fully elucidated. Although idiopathic (IPD) and familial PD (FPD) share similar pathophysiology in terms of protein aggregation, the differential impact of PVS on PD subtypes remains unknown. Our objective was to examine the differences in PVS volume fraction in IPD and FPD compared to healthy controls (HCs) and nonmanifest carriers (NMCs). Methods A total of 470 individuals were analyzed from the Parkinson's Progression Markers Initiative database, including (1) IPD (n = 179), (2) FPD (LRRK2 [leucine‐rich repeat kinase 2], glucocerebrosidase, or α‐synuclein) (n = 67), (3) NMC (n = 101), and (4) HCs (n = 84). Total PVS volume fraction (%) was compared using parcellation and quantitation within greater white matter volume at global and regional levels in all cortical and subcortical white matter. Results There was a significant increase in global and regional PVS volume fraction in PD versus non‐PD, particularly in FPD versus NMC and LRRK2 FPD versus NMC. Regionally, FPD and NMC differed in the medial orbitofrontal region, as did LRRK2 FPD versus NMC. Non‐PD and PD differed in the medial orbitofrontal region and the banks of the superior temporal regions. IPD and FPD differed in the cuneus and lateral occipital regions. Conclusions Our findings support the role of PVS in PD and highlight a potentially significant contribution of PVS to the pathophysiology of FPD, particularly LRRK2. © 2021 International Parkinson and Movement Disorder Society

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Motor and non-motor features of Parkinson's disease in LRRK2 G2019S carriers versus matched controls

Abstract: 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.

Cited by 14 publications

References 14 publications

Prevalence of ten LRRK2 variants in Parkinson's disease: A comprehensive review

Prevalence of ten LRRK2 variants in Parkinson's disease: A comprehensive review

The genetic landscape of Parkinson's disease

Global and Regional Changes in Perivascular Space in Idiopathic and Familial Parkinson's Disease

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