Huntington's Disease Confirmed by Genetic and Pathological Study

ABSTRACT

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.