The psychosis spectrum in Parkinson disease

DH Ffytche, B Creese, M Politis, KR Chaudhuri… - Nature Reviews …, 2017 - nature.com
In 2007, the clinical and research profile of illusions, hallucinations, delusions and related
symptoms in Parkinson disease (PD) was raised with the publication of a consensus …

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 …

Differential effects of severe vs mild GBA mutations on Parkinson disease

Z Gan-Or, I Amshalom, LL Kilarski, A Bar-Shira… - Neurology, 2015 - AAN Enterprises
Objective: To better define the genotype-phenotype correlations between the type of GBA
(glucosidase, beta, acid) mutation, severe or mild, and the risk and age at onset (AAO), and …

Parkinson's disease: from monogenic forms to genetic susceptibility factors

S Lesage, A Brice - Human molecular genetics, 2009 - academic.oup.com
Research in Parkinson's disease (PD) genetics has been extremely prolific over the past
decade. More than 13 loci and 9 genes have been identified, but their implication in PD is …

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

J Neumann, J Bras, E Deas, SS O'Sullivan, L Parkkinen… - Brain, 2009 - academic.oup.com
Mutations in the glucocerebrosidase gene (GBA) are associated with Gaucher's disease, the
most common lysosomal storage disorder. Parkinsonism is an established feature of …

The relationship between glucocerebrosidase mutations and Parkinson disease

A Migdalska‐Richards… - Journal of …, 2016 - Wiley Online Library
Parkinson disease (PD) is the second most common neurodegenerative disorder after
Alzheimer disease, whereas Gaucher disease (GD) is the most frequent lysosomal storage …

GBA‐Related Parkinson's Disease: Dissection of Genotype–Phenotype Correlates in a Large Italian Cohort

S Petrucci, M Ginevrino, I Trezzi, E Monfrini… - Movement …, 2020 - Wiley Online Library
Background Variants in GBA are the most common genetic risk factor for Parkinson's
disease (PD). The impact of different variants on the PD clinical spectrum is still unclear …

Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease

S Lesage, M Anheim, C Condroyer… - Human molecular …, 2011 - academic.oup.com
Pathogenic variants in the glucocerebrosidase gene (GBA) encoding the enzyme deficient
in Gaucher's disease (GD) are associated with Parkinson's disease (PD). To investigate the …

Cerebrospinal fluid biomarkers in Parkinson disease

L Parnetti, A Castrioto, D Chiasserini… - Nature Reviews …, 2013 - nature.com
Clinical diagnosis of Parkinson disease (PD) is difficult in early stages of disease, with high
risk of misdiagnosis. The long preclinical phase of PD provides the possibility for early …