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A rare disorder characterised by a slowly progressive pure cerebellar ataxia associated with dysarthria. It has been described in 53 individuals from 26 families of Canadian origin. The mode of transmission is autosomal recessive. Positional cloning has led to the identification of several <i<SYNE1</i> gene mutations.
No hypotheses generated for this disease yet.
The autonomous pipeline will investigate this disease when evidence emerges.