Ch 22: What is Huntington's disease

Question 1

Huntington

Answer 1

hereditary brain disease with progressive motor, cognitive and neuropsychiatric impairments
30-50 years 
duration = 15-20 years until death 
cannot be prevented, cured or delayed 
relief of the symptoms is possible

Question 2

Huntington: development

Answer 2

genetic mutation –> CAG repeats (more = sooner)

child of Huntington patient –> 50% chance

Question 3

Huntington: neuropathology

Answer 3

gene abnormality changes the function of the Huntington protein –> cell dead in parts of the basal ganglia (striatum: caudate nucleus and putamen)

early stage (before manifestation): functional + structural brain changes 
advanced stage: general atrophy --> motor + cognitive + emotional + behavioural symptoms

Question 4

Huntington: motor disorders

Answer 4

dyskinesias: chorea (more involuntary movements)
hypokinesia (fewer spontaneous movements)
bradykinesia (slowness)
dystonia (disturbed muscle tension)
rigidity (stiffness)
balance problems

Question 5

Huntington: cognitive disorders

Answer 5

Initially: bradyphrenia (slowness of info processing)
As disease advances
- intelligence
- memory
- speed of information processing 
- attention and executive functioning 
- disease awareness (not) 
- Perception and spatial cognition 
- speech and language 
- social cognition and emotion

Question 6

Huntington: neuropsychiatric disorders

Answer 6

1. affective disorders (depression)
2. apathy (loss of interest, motivation and initiative)
3. irritability
4. disinhibition
5. compulsiveness
6. psychotic symptoms

Question 7

Huntington: physical problems

Answer 7

weight loss due to motor problems in chewing and swallowing

Question 8

Huntington: pre-manifest stage

Answer 8

minor motor abnormalities

subtle changes in cognitive functioning (slowed pace/executive problems)

Question 9

Huntington: diagnostic process

Answer 9

UHDRS scale –> severity cognitive symptoms

PBA –> neuropsychiatric complaints