huntington

Question 1

Huntington disease

Answer 1

A progressive neurodegenerative disorder which presents involuntary movements (uncontrollable gait), dementia and behaviourl changes

Question 2

Huntington physiological effects

Answer 2

-Degeneration and atrophy of basal ganglia and cerebral cortex, especially neostriatum in cortex
-Neurotransmitters become deficient and are unable to modulate movement or transmit signals
-abnormal increase in astrocytes
-Mainly striatum is affected
-gross atrophy of the caudate nucleus and putamen

Question 3

HTT gene

Answer 3

-Huntingtin gene
-Short arm of chromosome 4
-codes for Hutingten protein

Question 4

Htt protein normal

Answer 4

Unknown normal function
-Thought to be involved in neuronal survival by regulating the nuclear translocation of the transcriptional repressor REST/NRSF to allow brain derived neutrophic factor transcription to occur

Question 5

Neuronal degeneration of disease

Answer 5

it starts in striatum and progresses to cerebral cortex

Question 6

NRSF

Answer 6

Neuron-restrictive silencing factor
-It is a transcriptional repressor which acts via epigenetic remodelling to silence target genes

Question 7

Triplet Repeats

Answer 7

Healthy
-9-35 CAG repeats
Carriers
>36 CAG repeats

Question 8

Genetic testing for huntingten

Answer 8

-Blood sample used
-checks for CAG repeats
-infected typically have over 40 to even 100

Question 9

Age of disease

Answer 9

manifests between 35-45 years old
-could show earlier

Question 10

early stages of HD

Answer 10

-short term memory deficits
-motor dysfunction
-cognitive changes in intermediate stages of dementia

Question 11

treatment for rigidity and bradykinesia

Answer 11

levodopa or dopamine agonists

Question 12

Hallucinations, delusions or shizophrenia

Answer 12

antipsychotics

Question 13

depression

Answer 13

SSRI and other antidepressent medication

Question 14

other types of treatment

Answer 14

Physiotherapeutic management