期刊
AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION
卷 14, 期 1, 页码 26-29出版社
INFORMA HEALTHCARE
DOI: 10.3109/17482968.2012.725415
关键词
C9ORF72; Parkinson's disease (PD); multiple system atrophy (MSA); progressive supranuclear palsy (PSP); hexanucleotide repeat expansion
资金
- Swedish Brain Research Foundation
- Hallsten's Research Foundation
- Kempe Foundation
- Swedish Science Council
- Swedish Brain Power Consortium
- Erling-Persson Family Foundation
- Torsten Soderberg Foundation
- Swedish Association for the Neurologically Disabled
An intronic GGGGCC-hexanucleotide repeat expansion in C9ORF72 was recently identified as a major cause of amyotrophic lateral sclerosis and frontotemporal dementia. Some amyotrophic lateral sclerosis patients have signs of parkinsonism, and many parkinsonism patients develop dementia. In this study we examined if the hexanucleotide repeat expansion was present in parkinsonism patients, to clarify if there could be a relationship between the repeat expansion and disease. We studied the size of the hexanucleotide repeat expansion in a well defined population-based cohort of 135 Parkinson's disease patients and 39 patients with atypical parkinsonism and compared with 645 Swedish control subjects. We found no correlation between Parkinson's disease or atypical parkinsonism and the size of the GGGGCC repeat expansion in C9ORF72. In conclusion, this GGGGCC-repeat expansion in C9ORF72 is not a cause of parkinsonism in the Swedish population.
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