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Very-late-onset Friedreich’s ataxia: diagnosis in a kindred with late-onset cerebellar ataxia
  1. Conor Fearon1,
  2. Roisin Lonergan2,
  3. Damien Ferguson1,
  4. Susan Byrne3,
  5. David Bradley1,
  6. Yvonne Langan1,
  7. Janice Redmond1
  1. 1Neurology, St James's Hospital, Dublin, Ireland
  2. 2Dublin Neurological Institute, Mater Misericordiae University Hospital, Dublin, Ireland
  3. 3Neurology, Our Lady's Children's Hospital, Dublin, Ireland
  1. Correspondence to Dr Conor Fearon, Neurology, St James's Hospital, Dublin D03 VX82, Ireland; cfearon{at}tcd.ie

Abstract

Friedreich’s ataxia is classically considered a disease with onset in the first or second decade. However, late-onset (age of onset 25–39 years) and very-late-onset (age of onset >40 years) forms do occur rarely. Misdiagnosis is common, particularly because the later onset forms of Friedreich’s ataxia commonly do not show characteristic features of the disorder (areflexia, dysarthria, sensory neuropathy, extensor plantars, amyotrophy, cardiac involvement, diabetes mellitus, scoliosis). Also, there may be atypical features such as spasticity, brisk reflexes and laryngeal dystonia. We present the clinical, imaging and genetic findings of a kindred with very-late-onset Friedreich’s ataxia and discuss the pitfalls and risk of misdiagnosis.

  • genetics
  • movement disorders
  • cerebellar ataxia
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Footnotes

  • Contributors CF, RL: research project organisation and execution, writing of the first draft of the manuscript. DF, SB, YL, DB: research project execution, review and critique of the manuscript. JR: research project conception and organisation, review and critique of the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Obtained.

  • Provenance and peer review Not commissioned. Externally peer reviewed by Rajith de Silva, Essex, UK.

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