Rare diseases

Question 1

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay - Anatomic site that makes you think of this disease

Answer 1

Cerebelum and brainstem

Question 2

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay - Clinical pattern that of disease

Answer 2

Early-onset of cerebelar and pyramidal syndrome

Question 3

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay - What’s the classic patient presentation?

Answer 3

Spastic ataxia with peripheral neuropahty

Question 4

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay - Classical neuroimage findings (4)

Answer 4

1. Superior vermis atrophy
2. Thining of the corpus callosum
3. Bilateral parallel parasagittal pontine T2 hypointense stripes
   4, Bilateral linear T2 hyperintensity of lateral thalami, adjacent to the posterior limb of the internal capsule

Question 5

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay - DTI findings

Answer 5

Thickening of the cerebellopontine tracts

Interruption/thining of the corticospinal tracts