Dominantly inherited and other ataxias

Adult onset disorders. Previous classification was clinically based. Now, increasingly 'gene-locus' syndromes have been defined.

Cerebellar ataxia (ADCA) Type 1

Autosomal dominant

Cerebellar ataxia (ADCA) Type 2

Autosomal dominant Cerebellar ataxia (ADCA) Type 3

± Ophthalmoplegia Mild dementia Optic atrophy Spasticity

Ataxia + Retinopathy

(progressive visual loss) ± Dementia - extrapyramidal features

Ataxia (alone)

- Age of onset > 50 years

Genetic Basis

Chromosome 6 - expanded trinucleotide repeat (CAG similar to Huntington's disease) termed Spinocerebellar ataxia locus - 1 - SCA I also Chromosome 12-SCA 2 Chromosome 14-SCA 3

Gene mutation, probably unstable trinucleotide repeat - chromosome location unknown

Chromosome II -expanded trinucleotide repeat

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