Neuropathology and molecular diagnosis of Synucleinopathies

S Koga, H Sekiya, N Kondru, OA Ross… - Molecular …, 2021 - Springer
Synucleinopathies are clinically and pathologically heterogeneous disorders characterized
by pathologic aggregates of α-synuclein in neurons and glia, in the form of Lewy bodies …

The genetic architecture of Parkinson's disease

C Blauwendraat, MA Nalls, AB Singleton - The Lancet Neurology, 2020 - thelancet.com
Parkinson's disease is a complex neurodegenerative disorder for which both rare and
common genetic variants contribute to disease risk, onset, and progression. Mutations in …

Apolipoprotein E and Alzheimer disease: pathobiology and targeting strategies

Y Yamazaki, N Zhao, TR Caulfield, CC Liu… - Nature Reviews …, 2019 - nature.com
Polymorphism in the apolipoprotein E (APOE) gene is a major genetic risk determinant of
late-onset Alzheimer disease (AD), with the APOE* ε 4 allele conferring an increased risk …

Converging pathways in neurodegeneration, from genetics to mechanisms

L Gan, MR Cookson, L Petrucelli, AR La Spada - Nature neuroscience, 2018 - nature.com
Neurodegenerative diseases cause progressive loss of cognitive and/or motor function and
pose major challenges for societies with rapidly aging populations. Human genetics studies …

Alzheimer's disease puzzle: delving into pathogenesis hypotheses

M Nasb, W Tao, N Chen - Aging and Disease, 2024 - pmc.ncbi.nlm.nih.gov
Alzheimer's disease (AD) is a prevalent neurodegenerative disease characterized by both
amnestic and non-amnestic clinical manifestations. It accounts for approximately 60-70% of …

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

R Chia, MS Sabir, S Bandres-Ciga, S Saez-Atienzar… - Nature …, 2021 - nature.com
The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed
whole-genome sequencing in large cohorts of LBD cases and neurologically healthy …

Are dementia with Lewy bodies and Parkinson's disease dementia the same disease?

KA Jellinger, AD Korczyn - Advances in Surgical and Medical …, 2023 - taylorfrancis.com
The clinical features of dementia with Lewy bodies (DLB) and Parkinson's disease dementia
(PDD) are similar and include dementia, cognitive fluctuations, and (visual) hallucinations in …

[HTML][HTML] GBA, Gaucher Disease, and Parkinson's Disease: From Genetic to Clinic to New Therapeutic Approaches

GM Riboldi, AB Di Fonzo - Cells, 2019 - mdpi.com
Parkinson's disease (PD) is the second most common degenerative disorder. Although the
disease was described more than 200 years ago, its pathogenetic mechanisms have not yet …

LRP1 is a neuronal receptor for α-synuclein uptake and spread

K Chen, YA Martens, A Meneses, DH Ryu, W Lu… - Molecular …, 2022 - Springer
Background The aggregation and spread of α-synuclein (α-Syn) protein and related
neuronal toxicity are the key pathological features of Parkinson's disease (PD) and Lewy …

Dementia with Lewy bodies: an update and outlook

TF Outeiro, DJ Koss, D Erskine, L Walker… - Molecular …, 2019 - Springer
Dementia with Lewy bodies (DLB) is an age-associated neurodegenerative disorder
producing progressive cognitive decline that interferes with normal life and daily activities …