Neurogenetics. 2011 Aug 10.
Evans-Galea MV, Corben LA, Hasell J, Galea CA, Fahey MC, du Sart D, Delatycki MB.
Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Australia.
Keywords: Friedreich ataxia (FRDA), GAA trinucleotide repeat expansion in the first intron of FXN, frataxin, early onset of symptoms, novel deletion-insertion mutation in exon 3 (c.371_376del6ins15).
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).
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).
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