Genetics and pathogenesis of Parkinson's syndrome

H Ye, LA Robak, M Yu, M Cykowski… - Annual Review of …, 2023 - annualreviews.org
Parkinson's disease (PD) is clinically, pathologically, and genetically heterogeneous,
resisting distillation to a single, cohesive disorder. Instead, each affected individual develops …

Prodromal Parkinson disease subtypes—key to understanding heterogeneity

D Berg, P Borghammer, SM Fereshtehnejad… - Nature Reviews …, 2021 - nature.com
In Parkinson disease (PD), pathological processes and neurodegeneration begin long
before the cardinal motor symptoms develop and enable clinical diagnosis. In this prodromal …

Assessment of heterogeneity among participants in the Parkinson's Progression Markers Initiative cohort using α-synuclein seed amplification: a cross-sectional study

A Siderowf, L Concha-Marambio, DE Lafontant… - The Lancet …, 2023 - thelancet.com
Background Emerging evidence shows that α-synuclein seed amplification assays (SAAs)
have the potential to differentiate people with Parkinson's disease from healthy controls. We …

Depression in patients with Parkinson's disease: current understanding of its neurobiology and implications for treatment

S Prange, H Klinger, C Laurencin, T Danaila… - Drugs & Aging, 2022 - Springer
Depression is one of the most frequent and burdensome non-motor symptoms in
Parkinson's disease (PD), across all stages. Even when its severity is mild, PD depression …

A proteogenomic view of Parkinson's disease causality and heterogeneity

S Kaiser, L Zhang, B Mollenhauer, J Jacob… - npj Parkinson's …, 2023 - nature.com
The pathogenesis and clinical heterogeneity of Parkinson's disease (PD) have been
evaluated from molecular, pathophysiological, and clinical perspectives. High-throughput …

Glucocerebrosidase mutations and Parkinson disease

SRL Vieira, AHV Schapira - Journal of Neural Transmission, 2022 - Springer
The discovery of glucocerebrosidase (GBA1) mutations as the greatest numerical genetic
risk factor for the development of Parkinson disease (PD) resulted in a paradigm shift within …

Glucocerebrosidase defects as a major risk factor for Parkinson's disease

M Avenali, F Blandini, S Cerri - Frontiers in aging neuroscience, 2020 - frontiersin.org
Heterozygous mutations of the GBA1 gene, encoding for lysosomal enzyme
glucocerebrosidase (GCase), occur in a considerable percentage of all patients with …

Brain Microglial Activation Increased in Glucocerebrosidase (GBA) Mutation Carriers without Parkinson's disease

S Mullin, MG Stokholm, D Hughes, A Mehta… - Movement …, 2021 - Wiley Online Library
Background Glucocerebrosidase gene mutations are a common genetic risk factor for
Parkinson's disease. They exhibit incomplete penetrance. The objective of the present study …

Blood-based biomarker in Parkinson's disease: potential for future applications in clinical research and practice

L Tönges, C Buhmann, S Klebe, J Klucken… - Journal of Neural …, 2022 - Springer
The clinical presentation of Parkinson's disease (PD) is both complex and heterogeneous,
and its precise classification often requires an intensive work-up. The differential diagnosis …

The pathobiological basis of depression in Parkinson disease: challenges and outlooks

KA Jellinger - Journal of neural transmission, 2022 - Springer
Depression, with an estimated prevalence of about 40% is a most common neuropsychiatric
disorder in Parkinson disease (PD), with a negative impact on quality of life, cognitive …