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Friedreich Ataxia: From GAA Triplet–Repeat Expansion to Frataxin Deficiency

2001; Elsevier BV; Volume: 69; Issue: 1 Linguagem: Inglês

10.1086/321283

1537-6605

Pragna I. Patel, Grazia Isaya,

Muscle Physiology and Disorders

Friedreich ataxia (FRDA [MIM 229300]), the most prevalent inherited ataxia, is an autosomal recessive disease with onset in early childhood followed by an unremitting course that terminates with death in the fourth or fifth decade of life. It occurs at a frequency of 1–2 per 50,000 individuals. FRDA is characterized clinically by progressive gait and limb ataxia; signs of upper motoneuron dysfunction including dysarthria, areflexia, and loss of the senses of position and vibration; cardiomyopathy; diabetes mellitus; and secondary skeletal abnormalities.