Neurology

Topic: Huntington Disease

By: Harish Teli

Ghanisth Sharma
Definition:

Huntington disease (HD), a neurodegenerative autosomal

dominant disorder, is characterized by involuntary choreatic
movements with cognitive and behavioral disturbances .

• HD commonly affects patients between the ages of 30 to

50 years. However, the longer the CAG repeats, the earlier
the onset of symptoms.

• The term juvenile HD refers to the onset of illness before

the age of 20 and is characterized by learning difficulties
as well as behavioral disturbances at school .
Etiology

• An autosomal dominant disorder

• CAG repeats on the short arm of chromosome 4p16.3 in the
HTT gene.
• The gene encodes for the HTT protein,
• Intranuclear and intracytoplasmic inclusions are found in
several areas of the brain.
• CAG repeats in the range of 36 to 55.
• Those with juvenile-onset of the disease usually have CAG
repeats greater than 60.
Pathophysiology
• The primary feature is the degeneration of neurons in the
putamen, caudate as well as the cerebral cortex.

• Loss of substance-P containing medium spiny neurons in the

direct pathway results in the development of dystonia and
akinesia.
• Intracytoplasmic and intranuclear inclusions containing the
mutant HTT which lead to an impairment of the ubiquitin
Signs and Symptoms
• Classically consist of motor, cognitive, and psychiatric
disturbances. Other less common features include weight loss,
sleep disturbances, and autonomic nervous system dysfunction.
• Hypokinesia with bradykinesia and dystonia and rigidity
• Behavioral and psychiatric symptoms: present early
• Dementia
• Gait Ataxia
• Chorea:caudate nucleus damage:involuntary movements in the
distal extremities
• Athetosis: globus pallidus # cause slow writhing movement
• Amnesia
• Cog wheel rigidity: upper limb
• Lead pipe rigidity: lower limb