Olivopontocerebellar atrophy
OPCA I (or SPA 1) — Autosomal dominant. Onset of symptoms usually in the third or fourth decade of life, most often around age 30. Due to expansion of a CAG trinucleotide sequence in the ataxin-1 gene (ATX1) on chromosome 6p23.
OPCA II — Autosomal recessive. Called the Fickler-Winkler type of OPCA. Differs from OPCA I in a lack of involuntary movements and of sensory changes. Gene not known.
OPCA II (or SCA 2) — Autosomal dominant. Called the Cuban type of OPCA. Due to expansion of a CAG trinucleotide sequence in the ataxin-2 gene (ATX2) on chromosome 12q24.
OPCA III (or SCA 7) — Autosomal dominant. OPCA with macular degeneration and ophthalmoplegia. Due to expansion of a trinucleotide sequence in the ataxin-7 gene (SCA7) on chromosome 3p.
OPCA IV — Autosomal dominant. Similar clinically to OPCAI but with spastic paraplegia. May be due to a different mutation in the ataxin-1 gene (ATX1) and so be alleleic to OPCA I.
OPCA V — Autosomal dominant. OPCA with progressive dementia and extrapyramidal neurologic signs. The gene responsible for this disease has not been identified.
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