L2 Huntingdon's disease Flashcards Preview

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Flashcards in L2 Huntingdon's disease Deck (16)
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1
Q

how is HD inherited

A

autosomal dominant CAG triplet repeat expansion

2
Q

what is the average age of onset and when does death happen

A

37 years

15-25 years after onset

3
Q

what are movement features of HD

A

chorea in 90% adult onset
motor incoordination
dystonia
oculomotor disturbance

4
Q

what are cognitive features of HD

A

difficulties with

planning, judgement, impulse control, flexibility, multi-tasking, emotional processing

5
Q

what are psychiatric features of HD

A
irritability
depression
anxiety
suicide
aggression
compulsions
psychosis
hypersexuality
- combination of pscyhiatric and cognitive features cause the greatest disability, functional decline and distress to relatives
- area most poorly catered for in our society because they fall in between psychiatry and neurology
6
Q

what happens in juvenile onset

early stage of disease

A

more aggressive, rigidity, dystonia, rapid cognitive decline

general restlessness, fidgety movements during stress

7
Q

what happens in mid course disease

A

extrapyramidal signs
oculomotor disturbance
impairment of voluntary motor function, clumsiness, disturbances in fine motor control, motor speed
gait disturbance
dysarthria (speech), dysphagia (swallowing)

8
Q

what happens during advanced stage disease

A

patients die of other causes associated with the disease
dominated by hypokinesia, rigidity, dystonia
mutism and severe dysphagia
severe eye movement abnormalities
agitation common
weight loss and emaciation
assisted suicide

9
Q

what does anti sense oligonucleotide do in the trial

A

interferes with the production of a protein

10
Q

what is a biomarker

A

a
characteristic that is objectively measured
and evaluated as an indicator of normal
biologic processes, pathogenic processes,
or pharmacologic responses to a
therapeutic intervention.”

11
Q

what do we need in a biomarker

A
sensitive to disease effects
- early HD
- premanifest stages
reproducible within and between sites
track change over time
link to clinically meaningful measure of function
12
Q

what is a clinical rating scale used

A

unified HD rating scale

for total functional capacity, total motor score

13
Q

what was the purpose of the TRACK-HD study

A

multi-national, longitudinal
develop biomarkers for future trials
baseline 12,24,36 month assessments in clinical, 3T MRI, quantitative motor, oculomotor, cognition, neuropsychiatry
123 controls, 120 premanifest gene carriers, 123 early HD

14
Q

what are types of quantitative motor tasks

A

oculomotor, speeded tapping tasks, tongue force

15
Q

how does imaging help

A

track disease progression

understand history of disease before clinical onset

16
Q

which imaging techniques are used

A
fMRI
PET
structural: MRI, CT, DTI
MRS
iron imaging