Huntington + Tourette

Question 1

what is the etiology of huntington disease?

Answer 1

autosomal dominant inheritance

Question 2

what is the age of onset of huntington disease?

Answer 2

30-50 years old

Question 3

what is the pathogenesis of huntington disease?

Answer 3

degeneration of GABA neurons, which are the inhibitors of movement

Question 4

what is observed in autopsy of a patient with huntington disease? (2)

Answer 4

severe striatal atrophy + ventricle enlargement

Question 5

what are the 2 main S&S of huntington disease?

Answer 5

dementia
chorea

Question 6

what does progression of dementia look like in huntington disease? (4)

Answer 6

irritability to…
moodiness to …
psychiatric disturbance to …
dementia

Question 7

what is the progression of chorea in huntington disease? (3)

Answer 7

restlessness to …
fidgetiness to …
chorea/dystonia

Question 8

what are 3 imaging to obtain to diagnose huntington disease?

Answer 8

CT/MRI
PET scan

Question 9

what will be seen in a CT/MRI of a patient with huntington disease? (2)

Answer 9

atrophy

cerebral atrophy
atrophy of caudate nucleus

Question 10

what will be seen in a PET scan of a patient with huntington disease?

Answer 10

reduced striatal metabolic rate

Question 11

how is a diagnosis of huntington disease made?

Answer 11

genetic testing

Question 12

what is the treatment goal for huntington disease?

Answer 12

symptomatic

Question 13

what medication can be used for huntington to reduce movement and improve dyskinesia?

Answer 13

tetrabenazine for chorea

Question 14

what medication can be used for huntington disease to control dyskinesia and behavioral disturbances?

Answer 14

haloperidol (antipsychotic)

Question 15

what medication can be used for huntington disease for psychosis, disruptive behavioral symptoms without chorea?

Answer 15

“quiet for psychosis”

quetiapine

Question 16

what should be offered to family members of patients who have huntington disease?

Answer 16

genetic testing

Question 17

what is the etiology of tourette syndrome?

Answer 17

bilinear transmission
inherited from both parents in most cases

Question 18

where does the disturbance occur in tourette syndrome?

Answer 18

mesolimbic spinal system

Question 19

when is onset of Tourette syndrome?

Answer 19

before 18 yo

Question 20

what is the majority of initial presentations of tourette syndrome?

Answer 20

motor tics

Question 21

what can tourette syndrome be associated with?

Answer 21

obsessive-compulsive disorders

Question 22

what is the 3 DSM-5 criteria for tourette syndrome?

Answer 22

multiple motor + at least 1 vocal tic at some point

present for over 1 year

onset before 18 yo

Question 23

what is the treatment for mild, non-disabling tics? (2)

Answer 23

education
cognitive behavioral therapy

Question 24

what is the treatment for bothersome tics?

Answer 24

tetrabenazine

Question 25

what is the treatment for focal motor (motor tic in specific muscle group) or vocal tics?

Answer 25

botulinum toxin injections into affected muscles

Question 26

what is the treatment for bothersome tics + prefer non-pharmacologic treatment or who have failed pharmacologic treatment? (2)

Answer 26

CBT + habit reversal training