Journal Article (Review Article)

DZNE-2020-03793

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png The significance of GBA for Parkinson's disease.

Brockmann, K. (First author)DZNE* ; Berg, D. (Last author)DZNE*

2014
Springer Science + Business Media B.V Dordrecht [u.a.]

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Please use a persistent id in citations: doi:10.1007/s10545-014-9714-7

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.

Keyword(s): Gaucher Disease: complications (MeSH) ; Gaucher Disease: epidemiology (MeSH) ; Gaucher Disease: genetics (MeSH) ; Genetic Predisposition to Disease (MeSH) ; Glucosylceramidase: genetics (MeSH) ; Glucosylceramidase: physiology (MeSH) ; Humans (MeSH) ; Parkinson Disease: complications (MeSH) ; Parkinson Disease: epidemiology (MeSH) ; Parkinson Disease: genetics (MeSH) ; Parkinsonian Disorders: complications (MeSH) ; Parkinsonian Disorders: epidemiology (MeSH) ; Parkinsonian Disorders: genetics (MeSH) ; Glucosylceramidase

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Contributing Institute(s):

1. Parkinson Genetics (AG Gasser)
2. Parkinson's Disease Genetics (AG Berg)

Research Program(s):

1. 345 - Population Studies and Genetics (POF3-345) (POF3-345)

Appears in the scientific report 2014

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Database coverage:
; BIOSIS Previews ; Clarivate Analytics Master Journal List ; Current Contents - Life Sciences ; IF < 5 ; JCR ; NCBI Molecular Biology Database ; Nationallizenz ; SCOPUS ; Science Citation Index ; Science Citation Index Expanded ; Web of Science Core Collection

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