Autosomal dominant inheritance: disease pattern needing only one defective copy of the gene, from either parent, e.g. Huntington's disease.
Huntington's Disease: Genetic Basis and Pathology
Huntington's disease (HD): fatal neurodegenerative disorder caused by an autosomal dominant mutation of the HD gene, located on the short arm of chromosome 4.
The mutant HD gene causes death of neurons in the caudate nucleus and putamen, producing Huntington's chorea.
Death follows about 5 to 10 years after symptoms first appear.
Clinical
Huntington's chorea: involuntary chorea (dance-like) movements of the limbs, from the underlying neuronal loss in the caudate nucleus and putamen.
Further features: mood disturbances, and swift grimaces with sudden movements of the head.
Progressive loss of mental activity also occurs.
High Yield
Autosomal dominant disease needs only one defective gene copy, from either parent, e.g. Huntington's disease.
HD gene: short arm of chromosome 4; mutant gene kills neurons in caudate nucleus and putamen.
Death follows 5 to 10 years after symptom onset.
Clinical features: chorea, mood disturbances, grimaces, progressive loss of mental activity.