Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome

作者：DeJesus Hernandez Mariely; Rayaprolu Sruti; Soto Ortolaza Alexandra I; Rutherford Nicola J; Heckman Michael G; Traynor Sharleen; Strongosky Audrey; Graff Radford Neill; Van Gerpen Jay; Uitti Ryan J; Shih Jerry J; Lin Siong Chi; Wszolek Zbigniew K; Rademakers Rosa; Ross Owen A^*

来源：Parkinsonism & Related Disorders, 2013, 19(2): 198-201.

DOI：10.1016/j.parkreldis.2012.09.013

• C9orf72
• Expanded repeat
• PD
• ET
• RLS
• Genetic association

The hexanucleotide expanded repeat (GGGGCC) in intron 1 of the C9orf72 gene is recognized as the most common genetic form of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). However, as part of the clinical phenotype, some patients present with parkinsonism. The present study investigated the potential expansion or association of the C9orf72 repeat length with susceptibility to Parkinson's disease and related disorders, essential tremor and restless legs syndrome. One restless legs syndrome patient was shown to harbor a repeat expansion, however on clinical follow-up this patient was observed to have developed frontotemporal dementia. There was no evidence of association of repeat length on disease risk or age-at-onset for any of the three disorders. Therefore the C9orf72 hexanucleotide repeat expansion appears to be specific to TDP-43 driven amyotrophic lateral sclerosis and dementia.

• 出版日期2013-2