Title |
Expanding the genetics of amyotrophic lateral sclerosis and frontotemporal dementia
|
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Published in |
Alzheimer's Research & Therapy, July 2012
|
DOI | 10.1186/alzrt133 |
Pubmed ID | |
Authors |
Jennifer C Schymick, Bryan J Traynor |
Abstract |
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized clinically by rapidly progressive paralysis leading ultimately to death from respiratory failure. It is now recognized that ALS and frontotemporal lobar degeneration (FTLD) form a clinical spectrum of disease with overlapping clinical, pathological and genetic features. This past year, the genetic causes of ALS have expanded to include mutations in the genes OPTN, VCP, and UBQLN2, and the hexanucleotide repeat expansion in C9ORF72. The C9ORF72 repeat expansion solidifies the notion that ALS and FTLD are phenotypic variations of a disease spectrum with a common molecular etiology. Furthermore, the C9ORF72 expansion is the genetic cause of a substantial portion of apparently sporadic ALS and FTLD cases, showing that genetics plays a clear role in sporadic disease. Here we describe the progress made in the genetics of ALS and FTLD, including a detailed look at how new insights brought about by C9ORF72 have both broadened and unified current concepts in neurodegeneration. |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 1 | 33% |
Switzerland | 1 | 33% |
Unknown | 1 | 33% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 2 | 67% |
Practitioners (doctors, other healthcare professionals) | 1 | 33% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Korea, Republic of | 1 | 4% |
Colombia | 1 | 4% |
Belgium | 1 | 4% |
Unknown | 23 | 88% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 5 | 19% |
Student > Bachelor | 4 | 15% |
Other | 3 | 12% |
Student > Master | 3 | 12% |
Student > Postgraduate | 2 | 8% |
Other | 5 | 19% |
Unknown | 4 | 15% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 7 | 27% |
Agricultural and Biological Sciences | 6 | 23% |
Biochemistry, Genetics and Molecular Biology | 4 | 15% |
Neuroscience | 2 | 8% |
Nursing and Health Professions | 1 | 4% |
Other | 1 | 4% |
Unknown | 5 | 19% |