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Characterising the Neuropathology and Neurobehavioural Phenotype in Friedreich Ataxia

A Systematic Review
  • Louise A. CorbenEmail author
  • Nellie Georgiou-Karistianis
  • John L. Bradshaw
  • Marguerite V. Evans-Galea
  • Andrew J. Churchyard
  • Martin B. Delatycki
Chapter
Part of the Advances in Experimental Medicine and Biology book series (AEMB)

Abstract

Friedreich ataxia (FRDA), the most common of the hereditary ataxias, is an autosomal recessive, multisystem disorder characterised by progressive ataxia, sensory symptoms, weakness, scoliosis and cardiomyopathy. FRDA is caused by a GAA expansion in intron one of the FXN gene, leading to reduced levels of the encoded protein frataxin, which is thought to regulate cellular iron homeostasis. The cerebellar and spinocerebellar dysfunction seen in FRDA has known effects on motor function; however until recently slowed information processing has been the main feature consistently reported by the limited studies addressing cognitive function in FRDA. This chapter will systematically review the current literature regarding the neuropathological and neurobehavioural phenotype associated with FRDA. It will evaluate more recent evidence adopting systematic experimental methodologies that postulate that the neurobehavioural phenotype associated with FRDA is likely to involve impairment in cerebello-cortico connectivity.

Keywords

Dentate Nucleus Superior Cerebellar Peduncle Friedreich Ataxia Tandem Repeat Polymorphism Cellular Iron Homeostasis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Landes Bioscience and Springer Science+Business Media 2012

Authors and Affiliations

  • Louise A. Corben
    • 1
    Email author
  • Nellie Georgiou-Karistianis
    • 2
  • John L. Bradshaw
    • 2
  • Marguerite V. Evans-Galea
    • 1
  • Andrew J. Churchyard
    • 3
  • Martin B. Delatycki
    • 1
    • 4
    • 5
  1. 1.Bruce Lefroy Centre for Genetic Health ResearchMurdoch Childrens Research Institute, The Royal Children’s HospitalParkvilleAustralia
  2. 2.Experimental Neuropsychology Research Unit, School of Psychology and PsychiatryMonash UniversityClaytonAustralia
  3. 3.Monash NeurologyMonash Medical CentreClaytonAustralia
  4. 4.Department of Clinical GeneticsAustin HealthHeidelbergAustralia
  5. 5.Department of MedicineUniversity of Melbourne at Austin HealthHeidelbergAustralia

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