Parkinson Plus Syndromes

Question 1

Do parkinson plus syndromes have good or poor response to levodopa therapy?

Answer 1

Poor

Question 2

Describe the presentation of multiple system atrophy.

Answer 2

Parkinsonism
Autonomic dysfunction (postural hypotension, erectile dysfunction, urinary urgency) and/or cerebellar dysfunction

Question 3

What is the MRI appearance of multiple system atrophy?

Answer 3

Putaminal atrophy

“Hot-cross bun” appearance of pons in axial section

Question 4

Describe the presentation of progressive supranuclear palsy.

Answer 4

Axial akinesia and rigidity
Loss of balance with unexplained falls
Forgetfulness
Dysarthria
Loss of eye movements esp in vertical plane

Question 5

What is the MRI appearance of supranuclear palsy?

Answer 5

Midbrain atrophy with “hummingbird” sign on sagittal view.

Question 6

Describe the presentation of vascular parkinsonism.

Answer 6

More problems with gait than tremor
More problems in lower body
Slower progression

Question 7

What scan would you use to look for vascular parkinsonism?

Answer 7

SPECT scan

Question 8

What mutation is involved in fragile X-tremor ataxia syndrome (FXTAS)?

Answer 8

CGG repeats in FMR1 gene

Question 9

Core symptoms of fragile X-tremor ataxia syndrome

Answer 9

Cerebellar ataxia
Postural/intention tremor Variably parkinsonism
Dysautonomia
Frontal cognitive decline
Peripheral neuropathy

Question 10

Do males or females get fragile X-tremor ataxia syndrome worse?

Answer 10

Males (x-linked inheritance)

Question 11

Investigation findings for fragile X-tremor ataxia syndrome.

Answer 11

MRI with T2 hyperintensities in middle cerebellar peduncles (MCP sign)
Molecular testing