Hereditary ataxias
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Keywords

Inherited ataxias
Episodic ataxias
Friedreich disease
Cerebellum

How to Cite

1.
Palencia R, Galicia Poblet G, Alonso Ballesteros M. Hereditary ataxias. Bol Pediatr. 2004;44(188):120-127. Accessed September 19, 2024. https://boletindepediatria.org/boletin/article/view/1032

Abstract

The ataxia disorder is an important neurologic finding that result from the involvement of the cerebellum or the sensitive afferents or efferents pathways. It can by related to some kind of pathology, like cerebellum tumors or inthe case inherited ataxias related to genetic disorders. In this paper, the inherited ataxias are review, three main groups can be dove: nonprogressive ataxias, progressive ataxias and episodic ataxias. In the first group and belonging to the recessive mode of inheritance, is among others, the Norman syndrome and the Gillespie syndrome. Among those of autosomic mode of inheritance, are the one former knowed as olivopontocebellar atrophy. Among the progressive ataxias, the most knowed by clinicians is the Friedreich´s ataxia (autosomal recessive). Those with autosomal dominant inheritance usually appears in adulthood.

 

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