Huntington's Disease: The Genetic Neurological Disorder
By Anshika
Understanding Huntington's disease — its genetic basis, progression, symptoms, and the latest research toward treatments and a cure.
Huntington's disease (HD) is a progressive, genetic neurodegenerative disorder that affects movement, cognition, and behavior. It is caused by a mutation in the HTT gene and is inherited in an autosomal dominant pattern — meaning each child of an affected parent has a 50% chance of inheriting the disease.
The Genetic Basis
The mutation involves a CAG trinucleotide repeat expansion. Normally, people have fewer than 26 CAG repeats. In HD, there are 36 or more repeats. The more repeats, the earlier the onset tends to be.
Symptoms
**Motor Symptoms:** Involuntary jerking movements (chorea), difficulty with coordination and balance.
**Cognitive Symptoms:** Difficulty with planning, organizing, and multitasking; slowed processing speed.
**Psychiatric Symptoms:** Depression (the most common), anxiety, irritability, obsessive-compulsive behaviors.
Treatment
There is no cure for HD. Current treatments focus on symptom management: tetrabenazine for chorea, antidepressants for mood symptoms, and physical, occupational, and speech therapy.
Research Toward a Cure
The discovery of the HD gene in 1993 opened the door to targeted therapies. Current research focuses on gene silencing (ASO therapies), gene editing (CRISPR approaches), and stem cell therapies.