Clinical aspects of Huntington's Flashcards
What does the HD gene code for
Huntingtin protein (HTT)
What does the absence of HTT cause
Embryonic death
What happens to a mutated HTT
Has a gain of function effect as it toxic to certain cell types, especially in the brain
Effect of HTT on brain
Neurotoxic
-Striatum affected first. All widespread cell death through the brain
Age of onset of Huntington’s
Typical onset is 30-50
Neurological features of Huntington’s
Chorea - unpredictable muscle movements
Dystonia- persons muscles contract uncontrollably
Dysarthria-can’t speak properly
Dysphagia
Cognitive features of Huntington’s
Progressive dementia of frontal lobe type - ‘concrete thinking’, loss of empathy, lack of insight, loss of verbal fluency, loss of ability to sequence
Psychiatric features of Huntington’s
Depression
Anxiety
Psychosis
Non neurological features of Huntington’s
High metabolic rate and weight loss
If a person is Asymptomatic but has a positive gene for Huntington’s what does this mean
does not designate onset of disease, but they then have a pre-symptomatic carrier status (they will develop Huntington’s characteristics)
When can you make a positive diagnosis for Huntington’s
relies on presence of a movement disorder in conjunction with a positive gene test
Can you make a diagnosis of Huntington’s based on a psychiatric symptom
No
Early features of Huntington’s
Chorea
Psychiatric
Frontal lobe features
Mid disease of Huntington’s
Marked chorea
Dystonia
Falls/declining mobility
Frontal lobe dementia and loss of verbal fluency
Swallowing difficulties, behavioural issues and psychiatric features
Late disease of Huntington’s
Anarthric (can't speak) Severe swallowing problems Immobile Weight loss Slowly progressive
