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

Pathology

• cardiac involvement accompanying ataxia
• retinal degeneration, pigmentary macular degeneration

Genetics

• associated with trinucleotide expansion repeat (poly-Gln) in gene for ataxin 7 (SCA7)
• autosomal dominant

Clinical manifestations

• onset may be in childhood
  • seizures, myoclonus, visual loss
• adult onset form
  • ataxia, macular degeneration, visual loss

Laboratory

• SCA7 gene CAG repeats

Diagnostic procedures

• electroretinogram
• visual evoked potential

More general terms

• olivopontocerebellar atrophy
• spinocerebellar ataxia (SCA)
• polyglutamine expansion disorder

Additional terms

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

Database

• OMIM: https://mirror.omim.org/entry/164500
• OMIM: https://mirror.omim.org/entry/607640
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6314