TY - CHAP
T1 - Characterising the neuropathology and neurobehavioural phenotype in Friedreich Ataxia: a systematic review
AU - Corben, Louise Anne
AU - Georgiou-Karistianis, Nellie
AU - Bradshaw, John Lockyer
AU - Evans-Galea, Marguerite V
AU - Churchyard, Andrew J
AU - Delatycki, Martin
PY - 2012
Y1 - 2012
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84934442223&partnerID=8YFLogxK
U2 - 10.1007/978-1-4614-5434-2_11
DO - 10.1007/978-1-4614-5434-2_11
M3 - Chapter (Book)
SN - 9781461454335
VL - 769
T3 - Advances in Experimental Medicine and Biology
SP - 169
EP - 184
BT - Tandem Repeat Polymorphisms: Genetic Plasticity, Neural Diversity and Disease
A2 - Hannan, Anthony J
PB - Springer
CY - Netherlands
ER -