Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease

作者：Rollinson Sara; Halliwell Nicola; Young Kate; Callister Janis Bennion; Toulson Greg; Gibbons Linda; Davidson Yvonne S; Robinson Andrew C; Gerhard Alex; Richardson Anna; Neary David; Snowden Julie; Mann David M A; Pickering Brown Stuart M^*

来源：Neurobiology of Aging, 2012, 33(8): 1846.e5.

DOI：10.1016/j.neurobiolaging.2012.01.109

• C9ORF72
• Alzheimer's disease
• Frontotemporal lobar degeneration

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.

• 出版日期2012-8