Hereditary ataxia

Case contributed by Dr Maxime St-Amant


Ataxia and leg spasticity.

Patient Data

Age: 20
Gender: Female

There is an important atrophy of the superior vermis. Less significant bilateral superior cerebellar atrophy and slight frontal cortical brain atrophy. The rest of the exam is within normal limits.

This patient was known for a hereditary ataxia syndrome.

Case Discussion

The main differential daignoses in this case are:

  • chronic alcoholism: produces similar vermis (diffuse, not specifically superior) atrophy and extensive cerebellar atrophy; however, it wouldn't happen to such a young patient!
  • hereditary ataxia syndrome: vermis and cerebellar atrophy with brain atrophy
  • Salla's disease:  a rare autosomal recessive lysosomal storage disease  in which there is extensive vermian atrophy, corpus callosal thinning
  • lipofuscinoses

Hereditary cerebellar atrophy carries a broad differential and is discussed in greater details here:

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Case information

rID: 18854
Published: 25th Jul 2012
Last edited: 22nd Dec 2017
Inclusion in quiz mode: Included

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