VPS35-Linked Parkinson’s Disease Resembles the Idiopathic Disease: A Review of Clinical Trials

Brim, Bianca; Gerhard, Ransmayr; Zimprich, Alexander; Struhal, Walter

doi:10.4172/2161-0460.1000387

Cited by 2 publications

(1 citation statement)

References 24 publications

(29 reference statements)

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“…Depression, psychosis, and autonomic compromise are also more common for certain SNCA variants compared to idiopathic PD [5,48,52,[59][60][61][62]. For VPS35, the most common point mutation p.D620N presents with classical PD features with minimal atypical signs, although postural instability and daytime sleepiness may be more common [48,63,64].…”

Section: Clinical Features Of Causal Mutations and Genetic Risk Facto...mentioning

confidence: 99%

A Review on Response to Device-Aided Therapies Used in Monogenic Parkinsonism and GBA Variants Carriers: A Need for Guidelines and Comparative Studies

Salles

Liao

Shuaib

et al. 2022

JPD

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Parkinson’s disease (PD) is in some cases predisposed-or-caused by genetic variants, contributing to the expression of different phenotypes. Regardless of etiology, as the disease progresses, motor fluctuations and/or levodopa-induced dyskinesias limit the benefit of pharmacotherapy. Device-aided therapies are good alternatives in advanced disease, including deep brain stimulation (DBS), levodopa-carbidopa intestinal gel, and continuous subcutaneous infusion of apomorphine. Candidate selection and timing are critical for the success of such therapies. Genetic screening in DBS cohorts has shown a higher proportion of mutation carriers than in general cohorts, suggesting that genetic factors may influence candidacy for advanced therapies. The response of monogenic PD to device therapies is not well established, and the contribution of genetic information to decision-making is still a matter of debate. The limited evidence regarding gene-dependent response to device-aided therapies is reviewed here. An accurate understanding of the adequacy and responses of different mutation carriers to device-aided therapies requires the development of specific studies with long-term monitoring.

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