Parkinson's disease: etiology, neuropathology, and pathogenesis

A Kouli, KM Torsney, WL Kuan - Exon Publications, 2018 - exonpublications.com
Parkinson's disease (PD) is a common neurodegenerative disorder. While a number of
nonmotor manifestations arise, the typical clinical features involve a movement disorder …

Neuropathology of genetic synucleinopathies with parkinsonism: review of the literature

SA Schneider, RN Alcalay - Movement Disorders, 2017 - Wiley Online Library
Clinical–pathological studies remain the gold‐standard for the diagnosis of Parkinson's
disease (PD). However, mounting data from genetic PD autopsies challenge the diagnosis …

Parkinson's disease age at onset genome‐wide association study: defining heritability, genetic loci, and α‐synuclein mechanisms

C Blauwendraat, K Heilbron, CL Vallerga… - Movement …, 2019 - Wiley Online Library
Background Increasing evidence supports an extensive and complex genetic contribution to
PD. Previous genome‐wide association studies (GWAS) have shed light on the genetic …

Parkinson's disease: proteinopathy or lipidopathy?

S Fanning, D Selkoe, U Dettmer - NPJ Parkinson's disease, 2020 - nature.com
Lipids play a more significant role in Parkinson's disease and its related brain disorders than
is currently recognized, supporting a “lipid cascade”. The 14 kDa protein α-synuclein (αS) is …

Parkinson Disease and Subthalamic Nucleus Deep Brain Stimulation: Cognitive Effects in GBA Mutation Carriers

G Pal, G Mangone, EJ Hill, B Ouyang, Y Liu… - Annals of …, 2022 - Wiley Online Library
Objective This study was undertaken to compare the rate of change in cognition between
glucocerebrosidase (GBA) mutation carriers and noncarriers with and without subthalamic …

Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations

RN Alcalay, OA Levy, CH Waters, S Fahn, B Ford… - Brain, 2015 - academic.oup.com
Glucocerebrosidase (GBA) mutations have been associated with Parkinson's disease in
numerous studies. However, it is unknown whether the increased risk of Parkinson's disease …

The role of lipids in Parkinson's disease

H Xicoy, B Wieringa, GJM Martens - Cells, 2019 - mdpi.com
Parkinson's disease (PD) is a neurodegenerative disease characterized by a progressive
loss of dopaminergic neurons from the nigrostriatal pathway, formation of Lewy bodies, and …

The link between the GBA gene and parkinsonism

E Sidransky, G Lopez - The Lancet Neurology, 2012 - thelancet.com
Mutations in the glucocerebrosidase (GBA) gene, which encodes the lysosomal enzyme that
is deficient in Gaucher's disease, are important and common risk factors for Parkinson's …

Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease

E Sidransky, MA Nalls, JO Aasly… - … England Journal of …, 2009 - Mass Medical Soc
Background Recent studies indicate an increased frequency of mutations in the gene
encoding glucocerebrosidase (GBA), a deficiency of which causes Gaucher's disease …

What genetics tells us about the causes and mechanisms of Parkinson's disease

O Corti, S Lesage, A Brice - Physiological reviews, 2011 - journals.physiology.org
Parkinson's disease (PD) is a common motor disorder of mysterious etiology. It is due to the
progressive degeneration of the dopaminergic neurons of the substantia nigra and is …