ArticleEuropean journal of neurology2017
GBA mutations in Parkinson disease: earlier death but similar neuropathological features.
Article in European journal of neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Association of gender and age at onset with glucocerebrosidase associated Parkinson's disease: a systematic review and meta-analysis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Pooled it
- Review
- Co- and Multi-Pathologies in Parkinson's Disease: An International Parkinson and Movement Disorder Society Scientific Issues Committee Review.Movement disorders : official journal of the Movement Disorder Society · 2026Review
- Pathology and Genetics in a Global Cohort of Parkinsonian Disorders.JAMA neurology · 2026Article
- Neuropathology in genetic Parkinson's disease: a focused review of pathological and clinical findings.Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- LRRK2 and GBA1 in Lewy body diseases: neuropathological subtypes at opposite ends of a spectrum?Molecular neurodegeneration · 2026Review
- Pathology and genetics in a global cohort of Parkinsonian Disorders.medRxiv : the preprint server for health sciences · 2026Article
- Epigenomic profile of GBA1 in Parkinson's disease.Parkinsonism & related disorders · 2025Article
- CSF Biomarker-Based Cognitive Trajectories in Parkinson's Disease-Subjective Cognitive Decline.Annals of clinical and translational neurology · 2025Article
- Role of GBA variants in Lewy body disease neuropathology.Acta neuropathologica · 2024Article
- A severe neurodegenerative disease with Lewy bodies and a mutation in the glucocerebrosidase gene.NPJ Parkinson's disease · 2023Article
- SWATH Mass Spectrometry-Based CSF Proteome Profile ofInternational journal of molecular sciences · 2022Article
- Skin alpha-synuclein deposit patterns: A predictor of Parkinson's disease subtypes.EBioMedicine · 2022Review
- Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism.International journal of molecular sciences · 2022Review
- Lipid level alteration in human and cellular models of alpha synuclein mutations.NPJ Parkinson's disease · 2022Article
- LRRK2, GBA and their interaction in the regulation of autophagy: implications on therapeutics in Parkinson's disease.Translational neurodegeneration · 2022Review
- Current and emerging therapeutic targets for Parkinson's disease.Metabolic brain disease · 2021Review
- Review
- Precision medicine in Parkinson's disease patients with LRRK2 and GBA risk variants - Let's get even more personal.Translational neurodegeneration · 2020Review
- Association Between Glucocerebrosidase Mutations and Parkinson's Disease in Ireland.Frontiers in neurology · 2020Article
Corrections and comments
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Authors and funding
17 authors.
Funding
Abstract
background and purposeMutations in the glucocerebrosidase (GBA) gene are known to be a risk factor for Parkinson's disease (PD). Data on clinicopathological correlation are limited. The purpose of this study was to determine the clinicopathological findings that might distinguish PD cases with and without mutations in the GBA gene.
methodsData from the Arizona Study of Aging and Neurodegenerative Disorders were used to identify autopsied PD cases that did or did not have a GBA gene mutation. Clinical and neuropathological data were compared.
resultsTwelve PD cases had a GBA mutation and 102 did not. The GBA mutation cases died younger (76 vs. 81 years of age) but there was no difference in disease duration or clinical examination findings. No neuropathological differences were found in total or regional semi-quantitative scores for Lewy-type synucleinopathy, senile plaques, neurofibrillary tangles, white matter rarefaction or cerebral amyloid angiopathy scores.
conclusionsIn longitudinally assessed, autopsied PD cases, those with GBA mutations had a younger age at death but there was no evidence for clinical or neuropathological differences compared to cases without GBA mutations. Due to the small GBA group size, small differences cannot be excluded.
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