J Korean Neurol Assoc.  1996 Jun;14(2):502-510.

Diagnosis of Huntington's disease with Polymerase Chain Reaction

• Kim BJ
• Park KW
• Lee DH

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.

Keyword

Huntington's disease; CAG repeat; PCR

MeSH Terms

Adult
Alleles
Animals
Arm
Atrophy
Basal Ganglia
Brain
Caudate Nucleus
Chorea
Chromosomes, Human, Pair 4
Dementia
Diagnosis*
Dysarthria
Female
Fluorodeoxyglucose F18
Genes, vif
Glucose
Horns
Humans
Huntington Disease*
Hyperkinesis
Leukocytes
Magnetic Resonance Imaging
Metabolism
Mild Cognitive Impairment
Neurodegenerative Diseases
Polymerase Chain Reaction*
Positron-Emission Tomography
Reference Values
Siblings
Fluorodeoxyglucose F18
Glucose