Clinical and molecular aspects of Friedreich ataxia and other recessive and sporadic ataxias

Abstract:

In this review, we propose a diagnostic algorithm for patients with non dominant ataxia. Clinical and molecular issues are discussed, as well as the historical and physiopathogenic aspects. Discussion: Friedreich Ataxia (FA) is the most common autosomal recessive ataxia in Caucasian population, with an estimated frequency of 1/40 thousand liveborns. It is characterized by early-onset of progressive truncal and gait ataxia, impaired vibratory sense and absent lower limb tendon reflexes. It is caused by a homozygous expansion of a GAA repeat in intron 1 of the FXN (Frataxin) gene, which encodes a protein involved in mitochondrial iron metabolism. Recent reports have identified patients with typical FA features that do not harbor the classic mutation, and genetic heterogeneity has also been suggested; therefore various disorders should be considered in the differential diagnosis of FA. Therefore, we propose a clinical algorithm for the diagnosis of recessive and sporadic ataxias Conclusions: the accurate etiologic diagnosis of recessive and sporadic ataxia is relevant for the appropriate treatment and prognosis of afflicted patients. In our opinion, a thorough clinical evaluation is essential to optimize this procedure and to select the right confirmatory molecular tests.

Año de publicación:

2007

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Fuente:

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