Title |
Cognitive and behavioral features of c9FTD/ALS
|
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Published in |
Alzheimer's Research & Therapy, July 2012
|
DOI | 10.1186/alzrt132 |
Pubmed ID | |
Authors |
Bradley F Boeve, Neill R Graff-Radford |
Abstract |
Numerous kindreds with familial frontotemporal dementia or amyotrophic lateral sclerosis or both have been linked to chromosome 9 (c9FTD/ALS), and an expansion of the GGGGCC hexanucleotide repeat in the non-coding region of chromosome 9 open reading frame 72 (C9ORF72) was identified in the summer of 2011 as the pathogenic mechanism. An avalanche of papers on this disorder is in progress, and a relatively distinctive phenotype is taking form. In this review, we present an illustrative case and summarize the demographic, inheritance, clinical, and behavioral aspects and presumed pathologic underpinnings of c9FTD/ALS on the basis of the available data on more than 250 patients with frontotemporal lobar degeneration syndromes, parkinsonism, or ALS or a combination of these disorders. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Switzerland | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Spain | 1 | 3% |
Unknown | 33 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Postgraduate | 6 | 18% |
Student > Doctoral Student | 4 | 12% |
Other | 4 | 12% |
Researcher | 4 | 12% |
Student > Bachelor | 3 | 9% |
Other | 9 | 26% |
Unknown | 4 | 12% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 12 | 35% |
Neuroscience | 7 | 21% |
Agricultural and Biological Sciences | 4 | 12% |
Psychology | 3 | 9% |
Nursing and Health Professions | 1 | 3% |
Other | 0 | 0% |
Unknown | 7 | 21% |