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
- 2020.1
- 수록면
- 121 - 124 (4page)
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초록· 키워드
오류제보하기
The most common form of autosomal recessive hereditary spastic paraplegia (HSP) is caused by mutations in SPG11/KIAA1840 gene, which encodes for spatacsin. The clinical presentation of SPG11 is characterized by cognitive impairment, peripheral neuropathy and a thin corpus callosum in brain magnetic resonance imaging. We identified a novel homozygous nonsense mutation (c.6082C>T [p.Q2028]) in exon 32 of SPG11 in Korean siblings. Our findings suggest that this novel homozygous mutation in SPG11 is associated with HSP and with dysgenesis of the corpus callosum.
목차
등록된 정보가 없습니다.
참고문헌 (10)
참고문헌 신청
Stevanin G / 2007 / Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum / Nat Genet 39:366~372
Stevanin G / 2008 / Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration / Brain 131:772~784
Finsterer J / 2012 / Hereditary spastic paraplegia with autosomal dominant, recessive, X-linked, or maternal trait of inheritance / J Neurol Sci 318:1~18
Salinas S / 2008 / Hereditary spastic paraplegia : clinical features and pathogenetic mechanisms / Lancet Neurol 7:1127~1138
Shribman S / 2019 / Hereditary spastic paraplegia : from diagnosis to emerging therapeutic approaches / Lancet Neurol 18:1136~1146
Stevanin G / 2008 / Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration / Brain 131:772~784
Finsterer J / 2012 / Hereditary spastic paraplegia with autosomal dominant, recessive, X-linked, or maternal trait of inheritance / J Neurol Sci 318:1~18
Salinas S / 2008 / Hereditary spastic paraplegia : clinical features and pathogenetic mechanisms / Lancet Neurol 7:1127~1138
Shribman S / 2019 / Hereditary spastic paraplegia : from diagnosis to emerging therapeutic approaches / Lancet Neurol 18:1136~1146
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