Uncovering the genetic basis of Parkinson's disease globally: from discoveries to the clinic

SY Lim, AH Tan, A Ahmad-Annuar… - The Lancet …, 2024 - thelancet.com
Knowledge on the genetic basis of Parkinson's disease has grown tremendously since the
discovery of the first monogenic form, caused by a mutation in α-synuclein, and with the …

MDSGene update and expansion: Clinical and genetic spectrum of LRRK2 variants in Parkinson's disease

C Kruger, SY Lim, A Buhrmann, FL Fahrig, C Gabbert… - medRxiv, 2024 - medrxiv.org
Pathogenic variants in the LRRK2 gene are one of the most commonly identifiable
monogenic causes of Parkinson's disease (PD, PARK-LRRK2). This systematic MDSGene …

Clinical genetic testing in Parkinson's disease should become part of routine patient care

Z Gan-Or - Brain, 2024 - academic.oup.com
This scientific commentary refers to 'Relevance of genetic testing in the gene-targeted trial
era: the Rostock Parkinson's Disease Study'by Westenberger et al.(https://doi …

Identification of genetic variants in progressive supranuclear palsy in southeast asia

ASL Ng, AH Tan, YJ Tan, JL Lim, MM Lian… - Movement …, 2024 - Wiley Online Library
Background Progressive supranuclear palsy (PSP) is largely a sporadic disease with few
reported familial cases. Genome‐wide association studies (GWAS) in sporadic PSP in …

[HTML][HTML] Exploring environmental modifiers of LRRK2-associated Parkinson's disease penetrance: An exposomics and metagenomics pilot study on household dust

BT Andújar, SL Pereira, SB Busi, T Usnich… - Environment …, 2024 - Elsevier
Pathogenic variants in the Leucine-rich repeat kinase 2 (LRRK2) gene are a primary
monogenic cause of Parkinson's disease (PD). However, the likelihood of developing PD …

Genetic-based diagnostics of Parkinson's disease and other Parkinsonian syndromes

EN Somerville, Z Gan-Or - Expert Review of Molecular Diagnostics, 2024 - Taylor & Francis
Introduction Parkinson's disease (PD) is a complex disorder with vast clinical heterogeneity.
Recent genetic, imaging and clinical evidence suggest that there are multiple subtypes of …

Genetic and Epidemiological Insights into RAB32‐Linked Parkinson's Disease

M Radefeldt, S Lemke, K Chaichoompu… - Movement …, 2024 - Wiley Online Library
Abstract Background The p. Ser71Arg RAB32 variant was recently associated with
Parkinson's disease (PD). Objective The aim was to investigate the presence of RAB32 …

[HTML][HTML] A Global Perspective of GBA1-Related Parkinson's Disease: A Narrative Review

C Koros, A Bougea, I Alefanti, AM Simitsi… - Genes, 2024 - mdpi.com
Parkinson's disease (PD) is considered to be the second most prominent neurodegenerative
disease and has a global prevalence. Glucocerebrosidase (GBA1) gene mutations …

Global Perspectives on Returning Genetic Research Results in Parkinson Disease

AH Tan, P Saffie-Awad, AF Schumacher Schuh… - Neurology …, 2024 - neurology.org
Background and Objectives In the era of precision medicine, genetic test results have
become increasingly relevant in the care of patients with Parkinson disease (PD). While …

[HTML][HTML] Cerebral Amyloid-β Deposition, Axial Features, and Cognitive Alterations in Patients with Parkinson's Disease Treated with Bilateral STN-DBS: A Long-Term …

F Cavallieri, A Fraternali, A Arnone… - Journal of Personalized …, 2024 - mdpi.com
Objectives: Our aim was to evaluate the possible long-term cerebral deposition of amyloid-β
in patients with PD treated with subthalamic nucleus deep brain stimulation (STN-DBS) and …