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C9orf72 hexanucleotide repeat expansion analysis in Chinese spastic paraplegia patients
Yingying Luo1, Bin Jiao2, Junling Wang3
1Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, PR China; Department of Neurology, The Second Xiangya Hospital, Central South University, Changsha 410000, PR China.
C9orf72 repeat expansions were not found in Chinese patients with hereditary spastic paraplegia (HSP). This suggests that C9orf72 gene mutations are not a common cause of HSP in this population.
Area of Science:
- Neurogenetics
- Neurodegenerative Diseases
Background:
- A hexanucleotide repeat expansion in the C9orf72 gene is linked to frontotemporal dementia and amyotrophic lateral sclerosis.
- Overlapping phenotypes between hereditary spastic paraplegia (HSP), frontotemporal dementia, and amyotrophic lateral sclerosis suggest a potential role for C9orf72 expansions in HSP.
Purpose of the Study:
- To investigate whether C9orf72 gene expansions contribute to the risk of developing spastic paraplegia (SPG).
Main Methods:
- Genotyping analysis of 112 unidentified SPG patients, 68 SPG4 patients, and 313 controls in mainland China.
- Detection of hexanucleotide repeat expansions in the C9orf72 gene.
Main Results:
- No large C9orf72 repeat expansions were detected in any of the studied subjects.
- The presence of C9orf72 repeat expansions was not associated with the onset of HSP.
Conclusions:
- The findings indicate that C9orf72 repeat expansions are unlikely to be a significant genetic risk factor for HSP in the Chinese population studied.
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