대한치매학회지 (Dementia and Neurocognitive Disorders)

대한치매학회 (Korean Dementia Association)
권호 표지

SPG 11 유전자 돌연변이를 보인 얇은 뇌량을 동반한 강직성 하지마비

Hereditary Spastic Paraplegia with Thin Corpus Callosum and SPG 11 Gene Mutation

  • 장영희 (서울대학교 의과대학 신경과학교실, 분당서울대학교병원 신경과) ;
  • 백민재 (서울대학교 의과대학 신경과학교실, 분당서울대학교병원 신경과) ;
  • 김상윤 (서울대학교 의과대학 신경과학교실, 분당서울대학교병원 신경과)
  • Chang, YoungHee (Department of Neurology, Seoul National University College of Medicine, Seoul National University Bundang Hospital) ;
  • Baek, Min Jae (Department of Neurology, Seoul National University College of Medicine, Seoul National University Bundang Hospital) ;
  • Kim, SangYun (Department of Neurology, Seoul National University College of Medicine, Seoul National University Bundang Hospital)
  • Published : 2011.03.31
⟨ 이전 논문 다음 논문 ⟩

Abstract

Hereditary spastic paraplegia (HSP) with thin corpus callosum (TCC) is an autosomal recessive form of complicated HSP mainly characterized by slowly progressive spastic paraparesis and mental deterioration beginning in the second decade of life. We report one HSP with TCC patient. MRI shows thin corpus callosum and abnormal signal in the region of the forceps minor. He had decreased bilateral thalamic metabolism on $_{18}F$-flurodeoxyglucose PET. The neuropsychological test profile showed global cognitive impairment. We identified mutation of Spastic Paraparesis Gene 11 (SPG11) gene, was mapped to chromosome 15q13-15.

Keywords

References

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