Article
Characterising the neuropathology and neurobehavioural phenotype in Friedreich ataxia: a systematic review.
Advances in experimental medicine and biology - 1 Jan 2012
Corben Louise A, Georgiou-Karistianis Nellie, Bradshaw John L, Evans-Galea Marguerite V, Churchyard Andrew J, Delatycki Martin B
Abstract excerpt
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...
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