Genetic architecture of Parkinson's disease subtypes–Review of the literature

J Dulski, RJ Uitti, OA Ross, ZK Wszolek - Frontiers in Aging …, 2022 - frontiersin.org
The heterogeneity of Parkinson's disease (PD) has been recognized since its description by
James Parkinson over 200 years ago. The complexity of motor and non-motor PD …

GBA1 Gene Mutations in α-Synucleinopathies—Molecular Mechanisms Underlying Pathology and Their Clinical Significance

Z Granek, J Barczuk, N Siwecka… - International Journal of …, 2023 - mdpi.com
α-Synucleinopathies comprise a group of neurodegenerative diseases characterized by
altered accumulation of a protein called α-synuclein inside neurons and glial cells. This …

Genetic heterogeneity on sleep disorders in Parkinson's disease: a systematic review and meta-analysis

J Huang, Y Cheng, C Li, H Shang - Translational Neurodegeneration, 2022 - Springer
A growing amount of evidence has indicated contributions of variants in causative genes of
Parkinson's disease (PD) to the development of sleep disturbance in PD and prodromal PD …

Role of Lysosomal Gene Variants in Modulating GBA‐Associated Parkinson's Disease Risk

L Straniero, V Rimoldi, E Monfrini… - Movement …, 2022 - Wiley Online Library
Background To date, variants in the GBA gene represent the most frequent large‐effect
genetic factor associated with Parkinson's disease (PD). However, the reason why …

Mutational spectrum and clinical features of GBA1 variants in a Chinese cohort with Parkinson's disease

Y Zhou, Y Wang, J Wan, Y Zhao, H Pan, Q Zeng… - npj Parkinson's …, 2023 - nature.com
GBA1 variants are important risk factors for Parkinson's disease (PD). Most studies
assessing GBA1-related PD risk have been performed in European-derived populations …

Are patients with GBA–Parkinson disease good candidates for deep brain stimulation? A longitudinal multicentric study on a large Italian cohort

M Avenali, R Zangaglia, G Cuconato… - Journal of Neurology …, 2024 - jnnp.bmj.com
Background GBA variants increase the risk of developing Parkinson disease (PD) and
influence its outcome. Deep brain stimulation (DBS) is a recognised therapeutic option for …

Prevalence and genotype–phenotype correlations of GBA‐related Parkinson disease in a large Chinese cohort

J Ren, R Zhang, C Pan, J Xu, H Sun… - European Journal of …, 2022 - Wiley Online Library
Background and purpose Variants in the glucocerebrosidase (GBA) gene are recognized as
a common and important genetic risk factor for Parkinson disease (PD). However, the impact …

The Molecular Impact of Glucosylceramidase Beta 1 (Gba1) in Parkinson's Disease: a New Genetic State of the Art

JCC Dos Santos, GBC Mano… - Molecular …, 2024 - Springer
Parkinson's disease (PD) is a neurodegenerative disorder affecting 2–3% of those aged
over 65, characterized by motor symptoms like slow movement, tremors, and muscle rigidity …

Analysis of rare Parkinson's disease variants in millions of people

V Pitz, MB Makarious, S Bandres-Ciga, H Iwaki… - npj Parkinson's …, 2024 - nature.com
Although many rare variants have been reportedly associated with Parkinson's disease
(PD), many have not been replicated or have failed to replicate. Here, we conduct a large …

Subtyping of early-onset Parkinson's disease using cluster analysis: A large cohort study

Z Zhou, X Zhou, Y Xiang, Y Zhao, H Pan… - Frontiers in Aging …, 2022 - frontiersin.org
Background Increasing evidence suggests that early-onset Parkinson's disease (EOPD) is
heterogeneous in its clinical presentation and progression. Defining subtypes of EOPD is …