| Literature DB >> 22410647 |
Sara Rollinson1, Nicola Halliwell, Kate Young, Janis Bennion Callister, Greg Toulson, Linda Gibbons, Yvonne S Davidson, Andrew C Robinson, Alex Gerhard, Anna Richardson, David Neary, Julie Snowden, David M A Mann, Stuart M Pickering-Brown.
Abstract
Frontotemporal lobar degeneration (FTLD) is a highly familial neurodegenerative disease. It has recently been shown that the most common genetic cause of FTLD and amyotrophic lateral sclerosis (ALS) is a hexanucleotide repeat expansion in C9ORF72. To investigate whether this expansion was specific to the FTLD/ALS disease spectrum, we genotyped the hexanucleotide repeat region of C9ORF72 in a large cohort of patients with Alzheimer's disease (AD). A normal range of repeats was found in all cases. We conclude that the hexanucleotide repeat expansion is specific to the FTLD/ALS disease spectrum.Entities:
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Year: 2012 PMID： 22410647 DOI： 10.1016/j.neurobiolaging.2012.01.109
Source DB: PubMed Journal: Neurobiol Aging ISSN： 0197-4580 Impact factor: 4.673