Huntingtons

Question 1

define huntingtons disorder

Answer 1

Progressive neurodegenerative disorder

Question 2

what are the main movement clinical signs of huntingtons

Answer 2

chorea (jerky involuntary movements affecting especially the shoulders, hips, and face.)
dystonia, bradykinesia, swallowing/ choking, dysarthria

Question 3

what are the main mood clinical signs of huntingtons

Answer 3

depression, euphoria (a feeling or state of intense excitement and happiness), apathy, anxiety, aggression, psychotic symptoms

Question 4

what are the main cognition side effects of huntingtons

Answer 4

loss of executive functioning, rigidity of thought, memory loss, dementia

Question 5

what is the mean age of onset of hunting tons

Answer 5

35-40 years old.

Question 6

median survival after diagnosis of huntingotns

Answer 6

15-18 years.

Question 7

what mode of inheritance is hunting tons

Answer 7

Autosomal dominant disorder

Question 8

what type of penetrance do patients with hunting tons show

Answer 8

complete penetrance.

Question 9

which gene and what location mutation causes huntingtons disease

Answer 9

HTT gene at 4q16.3

Question 10

what trinucleotide repeat causes hunting tons

Answer 10

CAG

Question 11

what effect does the polyglutamine repeat have on the structure of tissues

Answer 11

Abnormal protein – increased number of glutamine amino acids = polyglutamine (polyQ) expansion which alters protein structure and biochemical properties.

Question 12

what protein aggregates in hunting tons

Answer 12

PolyQ cellular protein

Question 13

what structure in the brain is primarily affected by hunting tons

Answer 13

basal ganglia.

Question 14

define anticipation

Answer 14

the onset of a disorder occurs at an earlier age as it is passed from one generation to the next. Often this is associated with an increase in severity of symptoms.

Question 15

The phenomenon of anticipation is often linked to the gender of the parent: In huntingtons is it linked to maternal or paternal inheritance

Answer 15

paternal

Question 16

The phenomenon of anticipation is often linked to the gender of the parent: in my tonic dystrophy and fragile X syndrome is it linked to maternal or paternal inheritance

Answer 16

maternal

Question 17

define predicitive testing

Answer 17

Unique situation of knowing in advance about the future

Question 18

treatments for hunting tons

Answer 18

Symptomatic treatment only at present

No prevention or cure

Question 19

what are the primary reasons for testing someone for hunting tons

Answer 19

Just ‘want to know’
Plan future care
Want to plan their career
Make decisions about children
Inform other relatives whose risk may change

Question 20

why might people not test for hunting tons

Answer 20

Insurance
Changing risk to others
Impact on current relationships – and future..
Psychological impact
No medical advances yet