Autosomal recessive ataxias: 20 types, and counting.
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.
Embiruçu
Emília Katiane
EK
Outpatient Neurogenetics Clinic, Hospital das Clínicas, School of Medicine, University of São Paulo, São Paulo, SP, Brazil.
Martyn
Marcília Lima
ML
Schlesinger
David
D
Kok
Fernando
F
D000465:Algorithms; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D020754:Spinocerebellar Ataxias / Q000145:classification* / Q000235:genetics / Q000503:physiopathology