Title |
A single nucleotide polymorphism in the coding region of PGC-1α is a male-specific modifier of Huntington disease age-at-onset in a large European cohort
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Published in |
BMC Neurology, January 2014
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DOI | 10.1186/1471-2377-14-1 |
Pubmed ID | |
Authors |
Patrick Weydt, Selma M Soyal, G Bernhard Landwehrmeyer, Wolfgang Patsch, For the European Huntington Disease Network |
Abstract |
Genetic modifiers are important clues for the identification of therapeutic targets in neurodegenerative diseases. Huntington disease (HD) is one of the most common autosomal dominant inherited neurodegenerative diseases. The clinical symptoms include motor abnormalities, cognitive decline and behavioral disturbances. Symptom onset is typically between 40 and 50 years of age, but can vary by several decades in extreme cases and this is in part determined by modifying genetic factors. The metabolic master regulator PGC-1α, coded by the PPARGC1A gene, coordinates cellular respiration and was shown to play a role in neurodegenerative diseases, including HD. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 56 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Ph. D. Student | 9 | 16% |
Student > Master | 8 | 14% |
Student > Bachelor | 8 | 14% |
Researcher | 7 | 13% |
Student > Doctoral Student | 6 | 11% |
Other | 10 | 18% |
Unknown | 8 | 14% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 12 | 21% |
Agricultural and Biological Sciences | 11 | 20% |
Biochemistry, Genetics and Molecular Biology | 7 | 13% |
Nursing and Health Professions | 4 | 7% |
Neuroscience | 4 | 7% |
Other | 8 | 14% |
Unknown | 10 | 18% |