Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis

Emil Ygland, Franco Taroni, Cinzia Gellera, Serena Caldarazzo, Morten Duno, Maria Soller, Andreas Puschmann

Research output: Contribution to journalArticlepeer-review


Compound heterozygosity for a trinucleotide repeat expansion and a point mutation in the FXN gene is a rare cause of Friedreich ataxia (FRDA). Methods: We identified three Swedish FRDA patients with an FXN p.R165P missense mutation and compared their clinical features with six homozygote trinucleotide repeat expansion carriers. Patients were assessed clinically. Trinucleotide expansion length was determined and lymphocyte frataxin levels measured. Results: p.R165P mutation carriers became wheelchair bound early, but had retained reflexes, better arm function, milder dysarthria, and were more independent in activities of daily living. One p.R165P mutation carrier developed psychosis. Frataxin levels were higher than in homozygous trinucleotide expansion patients. One patient with homozygous trinucleotide repeat expansions and comorbid hemochromatosis had more severe FRDA symptoms than his sibling without hemochromatosis. Conclusion: p.R165P patients progress to a less disabling disease state than typical FRDA. Comorbid hemochromatosis may worsen FRDA symptoms through additive effects on iron metabolism.

Original languageEnglish
Pages (from-to)919-923
Number of pages5
JournalParkinsonism and Related Disorders
Issue number8
Publication statusPublished - 2014


  • Disease progression
  • Friedreich ataxia
  • Genetic counseling
  • Hemochromatosis
  • Point mutation

ASJC Scopus subject areas

  • Geriatrics and Gerontology
  • Clinical Neurology
  • Neurology
  • Medicine(all)


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