GBA Variants and Parkinson Disease: Mechanisms and Treatments

L Smith, AHV Schapira - Cells, 2022 - mdpi.com
The GBA gene encodes for the lysosomal enzyme glucocerebrosidase (GCase), which
maintains glycosphingolipid homeostasis. Approximately 5–15% of PD patients have …

[HTML][HTML] Prevalence and clinical aspects of depression in Parkinson's disease: a systematic review and meta‑analysis of 129 studies

S Cong, C Xiang, S Zhang, T Zhang, H Wang… - … & Biobehavioral Reviews, 2022 - Elsevier
Depression is one of the most important non-motor symptoms in Parkinson's disease (PD),
but its prevalence and related clinical characteristics are unclear. To this end, we performed …

Perspective on the current state of the LRRK2 field

JM Taymans, M Fell, T Greenamyre, WD Hirst… - npj Parkinson's …, 2023 - nature.com
Almost 2 decades after linking LRRK2 to Parkinson's disease, a vibrant research field has
developed around the study of this gene and its protein product. Recent studies have begun …

The genetics of Parkinson's disease and implications for clinical practice

JO Day, S Mullin - Genes, 2021 - mdpi.com
The genetic landscape of Parkinson's disease (PD) is characterised by rare high penetrance
pathogenic variants causing familial disease, genetic risk factor variants driving PD risk in a …

The genetics of Parkinson disease

H Deng, P Wang, J Jankovic - Ageing research reviews, 2018 - Elsevier
About 15% of patients with Parkinson disease (PD) have family history and 5–10% have a
monogenic form of the disease with Mendelian inheritance. To date, at least 23 loci and 19 …

Cognitive decline in Parkinson disease

D Aarsland, B Creese, M Politis… - Nature Reviews …, 2017 - nature.com
Dementia is a frequent problem encountered in advanced stages of Parkinson disease (PD).
In recent years, research has focused on the pre-dementia stages of cognitive impairment in …

A review of Gaucher disease pathophysiology, clinical presentation and treatments

J Stirnemann, N Belmatoug, F Camou… - International journal of …, 2017 - mdpi.com
Gaucher disease (GD, ORPHA355) is a rare, autosomal recessive genetic disorder. It is
caused by a deficiency of the lysosomal enzyme, glucocerebrosidase, which leads to an …

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 …

Dementia with Lewy bodies and Parkinson's disease-dementia: current concepts and controversies

KA Jellinger - Journal of neural transmission, 2018 - Springer
Dementia with Lewy bodies (DLB) and Parkinson's disease-dementia (PDD), although
sharing many clinical, neurochemical and morphological features, according to DSM-5, are …

GBA and APOE Impact Cognitive Decline in Parkinson's Disease: A 10‐Year Population‐Based Study

AA Szwedo, I Dalen, KF Pedersen… - Movement …, 2022 - Wiley Online Library
Background Common genetic variance in apolipoprotein E (APOE), β‐glucocerebrosidase
(GBA), microtubule‐associated protein tau (MAPT), and α‐synuclein (SNCA) has been …