| 유전자 검사와 부검으로 확진된 헌팅턴씨 병 |
| 류철형, 이명식, 김윤중*, 석승환**, 양기화***, 송경순**** |
| 영동 세브란스병원 신경과, 연세 뇌 연구소, 강화의료원 신경과*, 용인 정신병원 신경과**,
남원의료원 병리과***, 영동 세브란스병원 임상병리과**** |
| Huntington's Disease Confirmed by Genetic and Pathological Study |
| Chul Hyoung Lyoo, M.D., Myung Sik Lee, M.D., Yun Joong Kim, M.D.*,
Seung Han Suk, M.D.**, Ki Hwa Yang, M.D.***, Kyung Soon Song**** |
| Department of neurology, Yongdong Severance Hospital, Yonsei Research Center,
* Kanghwa Hospital,** Department of neurology,Young Psychiatric Hospital,
*** Pathology, Namwon Hospital,
****Clinical Pathology, Yongdong Severance Hospital |
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| Abstract |
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Huntington's disease is an autosomal dominantly inherited neurodegenerative disease, which is characterized by choreic movement and progressive dementia. A definite diagnosis of Huntington's disease cannot be made by clinical informations alone. Pathologic or genetic studies are necessary to exclude other neurodegenerative diseases which may present with familial dementia, dystonia, and chorea. We report a 40 year-old male patient with Huntington's disease confirmed by pathologic and genetic studies. His daughter who had rigidity, dystonia, involuntary movement, and progressive cognitive decline had abnormal CAG trinucleotide repeat on the short arm of chromosome 4. These findings confirmed that the korean patient with Huntington's disease has same genetic abnormalities with the western and other oriental patients with
Huntington's disease. |
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