Spinocerebellar ataxia type I

[MIM 164 400]

(SCA1)

Prevalence 1 to 2/100,000. Autosomal dominant transmission with complete penetrance and anticipation phenomenon: the disease is due to an abnormal expansion of CAG trinucleotides in  ATXN1 gene (6p23).

Clinical presentation: onset usually around the age of 30-40 years, but cases have been reported from 4 years; ataxia, dysarthria, nystagmus, writing difficulties. Later: hyporeflexia, loss of proprioceptive sensitivity, ophthalmoparesis.

Bulbar signs appear 10 to 15 years after the onset of first symptoms and cause recurrent pulmonary infectious episodes.


Anesthetic implications:

antiparkinsonism therapy; spasticity


References :

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Updated: November 2016