Title |
Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene
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Published in |
Molecular Neurodegeneration, September 2014
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DOI | 10.1186/1750-1326-9-38 |
Pubmed ID | |
Authors |
Marka van Blitterswijk, Bianca Mullen, Aleksandra Wojtas, Michael G Heckman, Nancy N Diehl, Matthew C Baker, Mariely DeJesus-Hernandez, Patricia H Brown, Melissa E Murray, Ging-Yuek R Hsiung, Heather Stewart, Anna M Karydas, Elizabeth Finger, Andrew Kertesz, Eileen H Bigio, Sandra Weintraub, Marsel Mesulam, Kimmo J Hatanpaa, Charles L White, Manuela Neumann, Michael J Strong, Thomas G Beach, Zbigniew K Wszolek, Carol Lippa, Richard Caselli, Leonard Petrucelli, Keith A Josephs, Joseph E Parisi, David S Knopman, Ronald C Petersen, Ian R Mackenzie, William W Seeley, Lea T Grinberg, Bruce L Miller, Kevin B Boylan, Neill R Graff-Radford, Bradley F Boeve, Dennis W Dickson, Rosa Rademakers |
Abstract |
Hexanucleotide repeat expansions in chromosome 9 open reading frame 72 (C9ORF72) are causative for frontotemporal dementia (FTD) and motor neuron disease (MND). Substantial phenotypic heterogeneity has been described in patients with these expansions. We set out to identify genetic modifiers of disease risk, age at onset, and survival after onset that may contribute to this clinical variability. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | 20% |
United Kingdom | 1 | 20% |
Unknown | 3 | 60% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 3 | 60% |
Scientists | 1 | 20% |
Practitioners (doctors, other healthcare professionals) | 1 | 20% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 2 | 2% |
Colombia | 1 | <1% |
United Kingdom | 1 | <1% |
Brazil | 1 | <1% |
Belgium | 1 | <1% |
Philippines | 1 | <1% |
Unknown | 112 | 94% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 21 | 18% |
Student > Ph. D. Student | 20 | 17% |
Student > Doctoral Student | 11 | 9% |
Student > Master | 10 | 8% |
Other | 9 | 8% |
Other | 25 | 21% |
Unknown | 23 | 19% |
Readers by discipline | Count | As % |
---|---|---|
Neuroscience | 24 | 20% |
Medicine and Dentistry | 21 | 18% |
Agricultural and Biological Sciences | 21 | 18% |
Biochemistry, Genetics and Molecular Biology | 7 | 6% |
Psychology | 5 | 4% |
Other | 10 | 8% |
Unknown | 31 | 26% |