Chapter 22: Hintington's disease

Question 1

Huntington’s disease

Answer 1

A heriditary, autosomal dominant brain disease that is characterized by motor, cognitive and neuropsychiatric impairments. The disease is progressive and there is no cure for it, so people become entirely dependent on the care of ohters. The age of onset is around 40 and the duration is about 15-20 years.

Question 2

Symptoms of Huntington’s disease

Answer 2

• Involuntary movements
• Cognitive decline
• Changes is behavior
• Changes in mood
• Changes in personality
• Can cause: problems with speech, swallowing, sleep and body temperature, weight loss.

The involuntary, jerky and uncontrolled movements (chorea) worsen as the disease progresses, which can also be combined with reduced mobility (hypokinesia).

Question 3

Cause of Huntington’s

Answer 3

It’s caused bij a gene mutation which is an expansion of a section of CAG bases in the DNA on the short arm of the fourth chromosome that encodes for the Huntingtin protein.
People can now test if their embryo has this mutation.
The gene mutation causes cells in certain regions of the brain to die causing atrophy. This first appears in the basal ganglia, mostly in the striatum. This influences the somatomor cortex, the frontal cortex, the somatosensory cortex and the occipital lobe.

Question 4

Treatment

Answer 4

• Treatment with multidisciplinary team focusses on relieving symptoms and improving quality of life. They can have physiotherapy to optimize their posture, balance and strength and mobiltiy.
• Occupational therapy is used to increase the persons independence.
• Speech therapy can be used to help with speech and swallowing.
• Psychological treatment is used to reduce psychiatric complaints, like mood swings and coping.

Question 5

Cognitive consequences of the disease

Answer 5

In early stages there is a reduction of information processing speed, attention problems and problems in executive functioning. Another characteristic is that patients have limited awareness of the disease and underestimate the problems and consequential risks. They don’t see all of their involuntary movements and don’t fix the mistakes they make. They also show a reduced initiavive, reduce cognititve flexiblity, apathy and irritability.
The cognitive impairments may even precede the motor impairments. People have difficulty recognizing emotins and have an impaired theory of mind. There is a decline in semantic memory and information storage, language problems and even mutism at a later stage.
OCD behaviour is also a characteristic, but it decreases in the final stages. Psychotic symptoms may also arise.
Patients often pass away whil chocking, because of their swallowing problems, or form pneumonia (inflammatory disease).