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Characterising the Neuropathology and Neurobehavioural Phenotype in Friedreich Ataxia

A Systematic Review

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Tandem Repeat Polymorphisms

Part of the book series: Advances in Experimental Medicine and Biology ((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.

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Authors and Affiliations

  1. Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, The Royal Children’s Hospital, Parkville, Victoria, Australia

    Louise A. Corben, Marguerite V. Evans-Galea & Martin B. Delatycki

  2. Experimental Neuropsychology Research Unit, School of Psychology and Psychiatry, Monash University, Clayton, Victoria, Australia

    Nellie Georgiou-Karistianis & John L. Bradshaw

  3. Monash Neurology, Monash Medical Centre, Clayton, Victoria, Australia

    Andrew J. Churchyard

  4. Department of Clinical Genetics, Austin Health, Heidelberg, Victoria, Australia

    Martin B. Delatycki

  5. Department of Medicine, University of Melbourne at Austin Health, Heidelberg, Victoria, Australia

    Martin B. Delatycki

Authors
  1. Louise A. Corben
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  2. Nellie Georgiou-Karistianis
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  3. John L. Bradshaw
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  4. Marguerite V. Evans-Galea
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  5. Andrew J. Churchyard
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  6. Martin B. Delatycki
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Corresponding author

Correspondence to Louise A. Corben .

Editor information

Editors and Affiliations

  1. Florey Neuroscience Institutes, Melbourne Brain Centre, University of Melbourne, Parkville, Victoria, Australia

    Anthony J. Hannan Phd

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© 2012 Landes Bioscience and Springer Science+Business Media

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Corben, L.A., Georgiou-Karistianis, N., Bradshaw, J.L., Evans-Galea, M.V., Churchyard, A.J., Delatycki, M.B. (2012). Characterising the Neuropathology and Neurobehavioural Phenotype in Friedreich Ataxia. In: Hannan, A.J. (eds) Tandem Repeat Polymorphisms. Advances in Experimental Medicine and Biology. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-5434-2_11

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