Neurodegenerative diseases

Question 1

Name as many diseases that fall within the spectrum of neurodegenerative diseases

Answer 1

dementia
progressive epilepsy
progressive cerebellar syndrome
movement disorders
motor neurone disease

Question 2

Which protein is abnormal in Alzheimer’s disease

Answer 2

Tau, hyperphosphorylation results in insoluble neurofibrillary tangles. Beta amyloid plaques and neurofibrillary tangles

Question 3

What is the pathophysiology of frontotemporal dementia?

Answer 3

intraneuronal and glial tau deposition

Question 4

What are the features of frontotemporal dementia?

Answer 4

behavioural changes
language difficulties
parkinsonism

Question 5

List two tauopathies

Answer 5

Alzheimer’s disease
frontotemporal dementia
PSP
Corticobasal degeneration

Question 6

What is the hummingbird sign on MRI indicative of?

Answer 6

PSP= penguin sign (atrophy of midbrain)

Question 7

Name one alpha synucleinopathy

Answer 7

parkinson’s disease

Question 8

Which sleep disturbance is observed in parkinson’s disease?

Answer 8

REM sleep disturbance- shouting out dreams

Question 9

Name one prion disease

Answer 9

Creutzfeldt-Jakob disease

Question 10

Name one trinucleotide repeat disorder

Answer 10

Huntington’s disease
fragile x syndrome
myotonic dystrophy
friederich’s ataxia

Question 11

Which repeat is found in huntington’s disease?

Answer 11

CAG

Question 12

What is the clinical presentation of huntington’s disease

Answer 12

chorea, behavioural change, pscyhiatric disturbance, dementia

Question 13

Name one TDP-43 proteinopathy

Answer 13

Motor neuron disease