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spinocerebellar ataxia type 4 (SCA-4)

Pathology: - sensory axonal neuropathy may be pronounced Genetics: - maps to chromosome 16q22 Clinical manifestations: 1) similar to other spinocerebellar ataxias 2) Babinski sign may be pronounced Special laboratory: 1) nerve conduction study - axonal neuropathy effecting sensory nerves - prominent in SCA4

General

spinocerebellar ataxia (SCA)

Database Correlations

OMIM 600223 Entrez Gene 6312

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. UpToDate version 14.2
  4. PubMed Search PubMed search: spinocerebellar+ataxia+type+4