Arquivos de Neuro-Psiquiatria | |
Autosomal recessive ataxias: 20 types, and counting | |
Emília Katiane Embiruçu1  Marcília Lima Martyn1  David Schlesinger1  Fernando Kok1  | |
[1] ,University of São Paulo School of Medicine Hospital das ClínicasSão Paulo SP ,Brazil | |
关键词: autosomal recessive ataxias; cerebellar ataxia; cerebellum; Friedreich ataxia; ataxias autossômicas recessivas; cerebelo; ataxia cerebelar; ataxia de Friedreich; | |
DOI : 10.1590/S0004-282X2009000600036 | |
来源: SciELO | |
【 摘 要 】
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.
【 授权许可】
CC BY
All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License
【 预 览 】
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RO202103040010643ZK.pdf | 1119KB | download |