Journal
JOURNAL OF HUMAN GENETICS
Volume 59, Issue 3, Pages 163-172Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/jhg.2013.139
Keywords
array-based comparative genomic hybridization; hereditary spastic paraplegia; resequencing microarray
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Funding
- Ministry of Education, Culture, Sports, Science and Technology of Japan
- Ministry of Health, Welfare and Labour, Japan
- Japan Society for the Promotion of Science
- Grants-in-Aid for Scientific Research [22129002, 26461311, 25461287, 221S0002] Funding Source: KAKEN
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Hereditary spastic paraplegia (HSP) is one of the most genetically heterogeneous neurodegenerative disorders characterized by progressive spasticity and pyramidal weakness of lower limbs. Because 430 causative genes have been identified, screening of multiple genes is required for establishing molecular diagnosis of individual patients with HSP. To elucidate molecular epidemiology of HSP in the Japanese population, we have conducted mutational analyses of 16 causative genes of HSP (L1CAM, PLP1, ATL1, SPAST, CYP7B1, NIPA1, SPG7, KIAA0196, KIF5A, HSPD1, BSCL2, SPG11, SPG20, SPG21, REEP1 and ZFYVE27) using resequencing microarrays, array-based comparative genomic hybridization and Sanger sequencing. The mutational analysis of 129 Japanese patients revealed 49 mutations in 46 patients, 32 of which were novel. Molecular diagnosis was accomplished for 67.3% (33/49) of autosomal dominant HSP patients. Even among sporadic HSP patients, mutations were identified in 11.1% (7/63) of them. The present study elucidated the molecular epidemiology of HSP in the Japanese population and further broadened the mutational and clinical spectra of HSP.
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