Analysis of the C9orf72 repeat in Parkinson's disease,essential tremor and restless legs syndrome |
| |
Authors: | Mariely DeJesus-Hernandez Sruti Rayaprolu Alexandra I Soto-Ortolaza Nicola J Rutherford Michael G Heckman Sharleen Traynor Audrey Strongosky Neill Graff-Radford Jay Van Gerpen Ryan J Uitti Jerry J Shih Siong-Chi Lin Zbigniew K Wszolek Rosa Rademakers Owen A Ross |
| |
Institution: | 1. Department of Neuroscience, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA;2. Section of Biostatistics, Mayo Clinic, Jacksonville, FL 32224, USA;3. Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA;4. Department of Psychiatry, Mayo Clinic, Jacksonville, FL 32224, USA |
| |
Abstract: | 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. |
| |
Keywords: | |
本文献已被 ScienceDirect 等数据库收录! |
|