Title |
The significance of GBA for Parkinson's disease
|
---|---|
Published in |
Journal of Inherited Metabolic Disease, June 2014
|
DOI | 10.1007/s10545-014-9714-7 |
Pubmed ID | |
Authors |
Kathrin Brockmann, Daniela Berg |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Mexico | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 106 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 18 | 17% |
Student > Ph. D. Student | 16 | 15% |
Student > Bachelor | 12 | 11% |
Other | 10 | 9% |
Student > Master | 10 | 9% |
Other | 19 | 18% |
Unknown | 21 | 20% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 22 | 21% |
Biochemistry, Genetics and Molecular Biology | 15 | 14% |
Neuroscience | 14 | 13% |
Agricultural and Biological Sciences | 14 | 13% |
Chemistry | 5 | 5% |
Other | 9 | 8% |
Unknown | 27 | 25% |