What is Huntington?
Neurodegenerative disorder caused by CAG expansion in HTT.
Symptoms
Chorea, cognitive and psychiatric disturbances.
Genetic causes
Expanded CAG repeats in HTT beyond the normal range.
Inheritance pattern
Autosomal dominant.
Important genes
HTT.
Who should be tested?
Individuals with an affected parent or suggestive symptoms.
Recommended tests
Fragment analysis for CAG repeats.
Counseling
Presymptomatic counseling is recommended; PGT-M is an option for couples.