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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2008.1
- 수록면
- 304 - 312 (9page)
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초록· 키워드
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Distal hereditary motor neuropathy (dHMN) is a heterogeneous disorder characterized by degeneration of motor nerves in the absence of sensory abnormalities.
Recently, mutations in the small heat shock protein 27 (HSP27) gene were found to cause dHMN type II or Charcot-Marie-Tooth disease type 2F (CMT2F). The authors studied 151 Korean axonal CMT or dHMN families, and found a large Korean dHMN type II family with the Ser135Phe mutation in HSP27. This mutation was inherited in an autosomal dominant manner, and was well associated with familial members with the dHMN phenotype. This mutation site is located in the α-crystallin domain and is highly conserved between different species. The frequency of this HSP27 mutation in Koreans was 0.6%. Magnetic resonance imaging analysis revealed that fatty infiltrations tended to progressively extend distal to proximal muscles in lower extremities. In addition, fatty infiltrations in thigh muscles progressed to affect posterior and anterior compartments but to lesser extents in medial compartment, which differs from CMT1A patients presenting with severe involvements of posterior and medial compartments but less involvement of anterior compartment.
The authors describe the clinical and neuroimaging findings of the first Korean dHMN patients with the HSP27 Ser135Phe mutation. To our knowledge, this is the first report of the neuroimaging findings of dHMN type II.
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참고문헌 (23)
참고문헌 신청
Ackerley S / 2006 / A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport
Arrigo AP / 2007 / HSP27 (HspB1) and αB-crystallin (HspB5) as therapeutic targets / FEBS Lett 581 : 3665 ~ 74
Arya R / 2007 / Heat shock genes-integrating cell survival and death / J Biosci 32 : 595 ~ 610
Benn SC / 2002 / HSP27 upregulation and phosphorylation is required for injured sensory and motor neuron survival / Neuron 36 : 45 ~ 56
Berciano J / 2006 / Charcot-Marie-Tooth disease type 1A duplication with severe paresis of the proximal lower limb muscles: a long-term follow-up study / J Neurol Neurosurg P
Arrigo AP / 2007 / HSP27 (HspB1) and αB-crystallin (HspB5) as therapeutic targets / FEBS Lett 581 : 3665 ~ 74
Arya R / 2007 / Heat shock genes-integrating cell survival and death / J Biosci 32 : 595 ~ 610
Benn SC / 2002 / HSP27 upregulation and phosphorylation is required for injured sensory and motor neuron survival / Neuron 36 : 45 ~ 56
Berciano J / 2006 / Charcot-Marie-Tooth disease type 1A duplication with severe paresis of the proximal lower limb muscles: a long-term follow-up study / J Neurol Neurosurg P
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