Title |
Multiple system atrophy is not caused by C9orf72 hexanucleotide repeat expansions
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Published in |
Neurobiology of Aging, September 2014
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DOI | 10.1016/j.neurobiolaging.2014.08.033 |
Pubmed ID | |
Authors |
Sonja W. Scholz, Elisa Majounie, Tamas Revesz, Janice L. Holton, Michael S. Okun, Henry Houlden, Andrew B. Singleton |
Abstract |
Multiple system atrophy (MSA) is a fatal neurodegenerative disorder of unknown etiology that presents with variable combinations of progressive ataxia, parkinsonism, and autonomic instability. Pathologic expansion of a hexanucleotide repeat in the C9orf72 gene has been demonstrated to cause neurodegeneration with diverse neurologic presentations. To test the hypothesis whether pathologic expansions in C9orf72 are a cause of MSA, we undertook genetic screening in 100 neuropathologically confirmed cases. No pathologic repeat expansions were detected suggesting that MSA is not a C9orf72-related neurodegenerative disease. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 34 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 10 | 29% |
Researcher | 3 | 9% |
Professor > Associate Professor | 3 | 9% |
Student > Doctoral Student | 2 | 6% |
Student > Bachelor | 2 | 6% |
Other | 8 | 24% |
Unknown | 6 | 18% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 8 | 24% |
Neuroscience | 6 | 18% |
Biochemistry, Genetics and Molecular Biology | 3 | 9% |
Nursing and Health Professions | 2 | 6% |
Agricultural and Biological Sciences | 1 | 3% |
Other | 2 | 6% |
Unknown | 12 | 35% |