Fragile X tremor ataxia syndrome (FXTAS)

Question 1

Who gets FXTAS?

Answer 1

Late onset (>50 years) 
Females get milder symptoms- premature ovarian failure and menopause

Question 2

What is the genetic issue in FXTAS?

Answer 2

Abnormal number of CCG repeats on FRM1 gene ‘premutation range’

Question 3

Presentation of fragile X tremor ataxia symdrome?

Answer 3

Core symptoms:

• Cerebellar gait ataxia,
• Postural/intention tremor,
• Variably parkinsonism dysautonomia,
• Cognitive decline of frontal type
• Peripheral neuropathy

Question 4

There is a quick disease progression in FXTAS. True or false?

Answer 4

False. Slow disease progression

Question 5

Diagnosis of FXTAS?

Answer 5

• MRI with T2 hyperintensities in the middle cerebellar peduncles (MCP sign)
• Confirmation by molecular testing