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spinocerebellar ataxia type 7 (SCA-7); olivopontocerebellar atrophy type 3 (retinal degeneration)

Pathology: 1) cardiac involvement accompanying ataxia 2) retinal degeneration, pigmentary macular degeneration Genetics: 1) associated with trinucleotide expansion repeat (poly-Gln) in gene for ataxin 7 (SCA7) 2) autosomal dominant Clinical manifestations: 1) onset may be in childhood - seizures, myoclonus, visual loss 2) adult onset form - ataxia, macular degeneration, visual loss Laboratory: - SCA7 gene CAG repeats Special laboratory: 1) electroretinogram 2) visual evoked potential

Interactions

disease interactions

Related

ataxin-7; spinocerebellar ataxia type 7 protein (ATXN7, SCA7)

General

olivopontocerebellar atrophy (OPCA) or degeneration (OPCD); multiple system atrophy, cerebellar subtype polyglutamine expansion disorder spinocerebellar ataxia (SCA)

Database Correlations

OMIM correlations Entrez Gene 6314

References

  1. Duenas AM et al, Molecular pathogenesis of spinocerebellar ataxias. Brain. 2006, 120:1357 PMID: 16613893
  2. Koeppen AH et al, The pathogenesis of spinocerebellar ataxia. Cerebellum 2005, 4:62 PMID: 15895563
  3. OMIM :accession 164500
  4. UpToDate version 14.2
  5. PubMed Search PubMed search: spinocerebellar+ataxia+type+7+OR+olivopontocerebellar+atrophy+type+3