Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Case Study
  • Published:

An approach to the patient with late-onset cerebellar ataxia

Nature Clinical Practice Neurology volume 2, pages 629–635 (2006)Cite this article

Abstract

Background An 83-year-old man presented with hypertension, hyperlipidemia, and a previous basal cell carcinoma, having developed progressive worsening of his balance and difficulty walking at the age of 78 years. He was initially diagnosed with stroke, but MRI revealed only isolated cerebellar atrophy. The patient then underwent multiple evaluations for an underlying paraneoplastic process, all of which were negative, but his symptoms progressed and he remained undiagnosed for several years.

Investigations Neurological examination, laboratory blood tests, MRI, and directed genetic testing.

Diagnosis Five years after becoming symptomatic, the patient was re-evaluated for a possible genetic ataxia syndrome, which was subsequently confirmed by gene testing as spinocerebellar ataxia type 6 (SCA6).

Management Symptomatic medical treatment and physical, occupational, and speech therapy.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Figure 1: T1-weighted MRI brain scans of the patient demonstrating diffuse atrophy isolated to the cerebellum.

References

  1. Maschke M et al. (2005) Clinical feature profile of spinocerebellar ataxia type 1-8 predicts genetically defined subtypes. Mov Disord 20: 1405–1412

    Article  Google Scholar 

  2. Kerber KA et al. (2005) Late-onset pure cerebellar ataxia: Differentiating those with and without identifiable mutations. J Neurol Sci 238: 41–45

    Article  CAS  Google Scholar 

  3. Schols L et al. (2004) Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 3: 291–304

    Article  Google Scholar 

  4. van de Warrenburg BPC et al. (2005) Recent advances in hereditary spinocerebellar ataxias. J Neuropathol Exp Neurol 64: 171–180

    Article  CAS  Google Scholar 

  5. Zhuchenko O et al. (1997) Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamate expansions in the α1A-voltage-dependent calcium channel. Nat Gen 15: 62–69

    Article  CAS  Google Scholar 

  6. Takahashi H et al. (2004) A clinical and genetic study in a large cohort with spinocerebellar ataxia type 6. J Hum Genet 49: 256–264

    Article  Google Scholar 

  7. Waters MF et al. (2006) Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. Nat Gen 38: 447–451

    Article  CAS  Google Scholar 

  8. Perlman S (2004) Symptomatic and disease-modifying therapy for the progressive ataxias. Neurologist 10: 275–289

    Article  Google Scholar 

  9. Manto MU (2005) The wide spectrum of spinocerebellar ataxias (SCAs). Cerebellum 4: 2–6

    Article  CAS  Google Scholar 

  10. Mariotti C et al. (2005) An overview of the patient with ataxia. J Neurol 252: 511–518

    Article  CAS  Google Scholar 

  11. Di Donato S et al. (2001) The complex clinical and genetic classification of inherited ataxias. II: autosomal recessive ataxias. Neurol Sci 22: 219–228

    Article  CAS  Google Scholar 

  12. Bhidayasiri R et al. (2005) Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature. Arch Neurol 62: 1865–1869

    Article  Google Scholar 

  13. Neudorfer O et al. (2005) Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients. Genet Med 7: 119–123

    Article  CAS  Google Scholar 

  14. Hall DA et al. (2005) Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS). Neurology 65: 299–301

    Article  CAS  Google Scholar 

  15. Wenning GK et al. (2004) Multiple system atrophy. Lancet Neurol 3: 93–103

    Article  Google Scholar 

  16. Ironside JW et al. (2005) Phenotypic variability in human prion diseases. Neuropathol Appl Neurobiol 31: 565–579

    Article  CAS  Google Scholar 

  17. Abele M et al. (2002) The aetiology of sporadic adult-onset ataxia. Brain 125: 961–968

    Article  CAS  Google Scholar 

  18. Xia H et al. (2004) RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia. Nat Med 10: 816–820

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Neurology,

    Brent L Fogel & Susan Perlman

  2. Ataxia Center, University of California, Los Angeles, CA, USA

    Brent L Fogel & Susan Perlman

Authors
  1. Brent L Fogel
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Susan Perlman
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Susan Perlman.

Ethics declarations

Competing interests

The authors declare no competing financial interests.

Supplementary information

Supplementary Table 1

Internet resources: internet sites that may be useful for the differential diagnosis of hereditary ataxias. (DOC 25 kb)

Supplementary Reference List 1

Supplementary references for Table 4. (DOC 27 kb)

Rights and permissions

Reprints and permissions

About this article

Cite this article

Fogel, B., Perlman, S. An approach to the patient with late-onset cerebellar ataxia. Nat Rev Neurol 2, 629–635 (2006). https://doi.org/10.1038/ncpneuro0319

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1038/ncpneuro0319

This article is cited by

Search

Advanced search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing