지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2014.1
- 수록면
- 257 - 261 (5page)
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초록· 키워드
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Background and Purpose Hereditary spastic paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative disorders that are characterized by progressive spasticity andweakness of the lower limbs. Mutations in the spastin gene (SPAST) are the most commoncauses of HSP, accounting for 40–67% of autosomal dominant HSP (AD-HSP) and 12–18% ofsporadic cases. Mutations in the atlastin-1 gene (ATL1) and receptor expression-enhancing protein 1 gene (REEP1) are the second and third most common causes of AD-HSP, respectively.
Methods Direct sequence analysis was used to screen mutations in SPAST, ATL1, and REEP1in 27 unrelated Korean patients with pure and complicated HSP. Multiplex ligation-dependentprobe amplification was also performed to detect copy-number variations of the three genes.
Results Ten different SPAST mutations were identified in 11 probands, of which the following 6 were novel: c.760A>T, c.131C>A, c.1351_1353delAGA, c.376_377dupTA, c.1114A>G,and c.1372A>C. Most patients with SPAST mutations had AD-HSP (10/11, 91%), and the frequency of SPAST mutations accounted for 66.7% (10/15) of the AD-HSP patients. No significant correlation was found between the presence of the SPAST mutation and any of the variousclinical parameters of pure HSP. No ATL1 and REEP1 mutations were detected.
Conclusions We conclude that SPAST mutations are responsible for most Korean cases ofgenetically confirmed AD-HSP. Our observation of the absence of ATL1 and REEP1 mutationsneeds to be confirmed in larger series.
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참고문헌 (25)
참고문헌 신청
Beetz C / 2006 / High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia / Neurology 67 : 1926 ~ 1930
Crippa F / 2006 / Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia / Arch Neurol 63 : 750 ~ 755
Depienne C / 2006 / Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases / J Med Genet 43 : 259
Depienne C / 2007 / Exon deletions of SPG4 are a frequent cause of hereditary spastic parap
Depienne C / 2007 / Hereditary spastic paraplegias: an update / Curr Opin Neurol 20 : 674 ~ 680
Crippa F / 2006 / Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia / Arch Neurol 63 : 750 ~ 755
Depienne C / 2006 / Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases / J Med Genet 43 : 259
Depienne C / 2007 / Exon deletions of SPG4 are a frequent cause of hereditary spastic parap
Depienne C / 2007 / Hereditary spastic paraplegias: an update / Curr Opin Neurol 20 : 674 ~ 680
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