Diagnosis of Huntington's disease with Polymerase Chain Reaction

J Korean Neurol Assoc > Volume 14(2); 1996 > Article

Journal of the Korean Neurological Association 1996;14(2): 502-510.

중합효소 연쇄 반응을 이용한 헌팅톤씨 병의 진단

김병조, 박건우, 이대희

고려대학교 의과대학 신경과학교실

Diagnosis of Huntington's disease with Polymerase Chain Reaction

Byung Jo Kim, M.D., Kun Woo Park, M.D., Dae Hie Lee, M.D.

Department of Neurology, Korea University, College of Medicine

Abstract

Huntington's disease is an autosomal dominant neurodegenerative disorder that usually begins in mid-life and is characterized by a progression of involuntary choreiform movements, personality change, and dementia. 4 specific unstable trinucleotide (CAG) repeat expansion in a gene on the short arm of chromosome 4 was recently identified as the pathogenic mutation for this disease. We have analysed the CAG expansion in peripheral leukocyte from a woman suspected with Huntington's disease and her family. A 40-year-old woman visited for the 6 years history of progressing intractable involuntary hyperkinetic movement and antagonistic personality. She showed bilateral caudate nucleus atrophy with mild enlargement of both frontal horn at brain MRI and showed the decrement of glucose metabolism in both basal ganglia at 18F-FDG PET scan. We also studied about the clinical manifestations of her family. Her younger brother also showed mild cognitive impairment and dysarthria. She and her relatives (n = 6) were tested for the existence of high risk allele of Huntington's disease by polymerase chain reaction method. The high risk allele (above 40 CAG repeat) in the 1715 gene was confirmed in 6 persons including the patient. The CAG repeat variance was 46 to 54. Only one person showed the normal range of CAG repeat. Key Words : Huntington's disease, CAG repeat, PCR