Journal
ARQUIVOS DE NEURO-PSIQUIATRIA
Volume 67, Issue 4, Pages 1143-1156Publisher
ASSOC ARQUIVOS NEURO- PSIQUIATRIA
DOI: 10.1590/S0004-282X2009000600036
Keywords
autosomal recessive ataxias; cerebellar ataxia; cerebellum; Friedreich ataxia
Categories
Ask authors/readers for more resources
More than 140 years after the first description of Friedreich ataxia, autosomal recessive ataxias have become one of the more complex fields in Neurogenetics. Currently this group of diseases contains more than 20 clinical entities and an even larger number of associated genes. Some disorders are very rare, restricted to isolated populations, and others are found worldwide. An expressive number of recessive ataxias are treatable, and responsibility for an accurate diagnosis is high, The purpose of this review is to update the practitioner on clinical and pathophysiological aspects of these disorders and to present an algorithm to guide the diagnosis.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available