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The significance of GBA for Parkinson's disease
- Source :
- Journal of inherited metabolic disease 37(4), 643-648 (2014). doi:10.1007/s10545-014-9714-7
- Publication Year :
- 2014
- Publisher :
- Springer Science + Business Media B.V, 2014.
-
Abstract
- From the first descriptions of Parkinson’s disease (PD) and Gaucher’s disease (GD) in the nineteenth century, it took more than 100 years to discover the link between the GBA gene and Parkinsonism. The observation that mutations in the GBA gene represent the most common genetic risk factor for PD so far only came into focus because of astute clinical observation of Gaucher patients and their families. In this review, we (i) outline how GBA was identified as a genetic risk factor for Parkinsonism, (ii) present clinical characteristics of GBA-associated Parkinsonism, (iii) discuss possible mechanisms of the underlying pathogenesis in GBA-associated Parkinsonism, and (iv) provide an outlook on potentially new areas of research and treatment that arise from this important discovery.
- Subjects :
- Pathology
medicine.medical_specialty
Parkinson's disease
physiology [Glucosylceramidase]
Disease
Bioinformatics
genetics [Glucosylceramidase]
Parkinsonian Disorders
epidemiology [Gaucher Disease]
genetics [Parkinson Disease]
complications [Parkinsonian Disorders]
Genetics
medicine
Humans
Genetic Predisposition to Disease
ddc:610
epidemiology [Parkinsonian Disorders]
Genetics (clinical)
genetics [Gaucher Disease]
Gaucher Disease
business.industry
Parkinsonism
Parkinson Disease
medicine.disease
Human genetics
nervous system diseases
genetics [Parkinsonian Disorders]
Glucosylceramidase
Lewy body pathology
epidemiology [Parkinson Disease]
Genetic risk factor
complications [Gaucher Disease]
complications [Parkinson Disease]
business
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- Journal of inherited metabolic disease 37(4), 643-648 (2014). doi:10.1007/s10545-014-9714-7
- Accession number :
- edsair.doi.dedup.....300478f8eb081e6b41f43b414268f414