Thursday, August 11, 2011

Other autosomal recessive and childhood ataxias.

Handb Clin Neurol. 2011;103:343-57.

De Michele G, Filla A.

Keywords: "early-onset cerebellar ataxia with retained tendon reflexes" (EOCA), Friedreich ataxia (FRDA), preserved knee jerks, absence of cardiomyopathy, optic atrophy, diabetes mellitus, several FRDA patients present with an EOCA-like phenotype, Cerebellar ataxia with hypogonadism, autosomal recessive ataxia of Charlevoix-Saguenay (ARSACS), infantile-onset spinocerebellar ataxia (IOSCA).