Characterising the neuropathology and neurobehavioural phenotype in Friedreich Ataxia: a systematic review

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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. © 2012 Landes Bioscience and Springer Science+Business Media New York.

Original languageEnglish
Title of host publicationTandem Repeat Polymorphisms: Genetic Plasticity, Neural Diversity and Disease
EditorsAnthony J Hannan
Place of PublicationNetherlands
PublisherSpringer
Pages169 - 184
Number of pages16
Volume769
ISBN (Print)9781461454335
DOIs
Publication statusPublished - 2012

Publication series

NameAdvances in Experimental Medicine and Biology
Volume769
ISSN (Print)00652598

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