Article
Nonneurological Involvement in Late-Onset Friedreich Ataxia (LOFA): Exploring the Phenotypes.
Cerebellum (London, England) - 1 Feb 2017
Martinez Alberto R M, Moro Adriana, Abrahao Agessandro, Faber Ingrid, Borges Conrado R, Rezende Thiago J R, Martins Carlos R, Moscovich Mariana, Munhoz Renato P, Segal Sandra Leistner, Arruda Walter O, Saraiva-Pereira Maria Luiza, Karuta Simone, Pedroso José Luiz, D'Abreu Anelyssa, Jardim Laura B, Lopes-Cendes Íscia, Barsottini Orlando G, Teive Hélio A G, França Marcondes C
Abstract excerpt
Friedreich's ataxia (FDRA) is the most common inherited ataxia worldwide, caused by homozygous GAA expansions in the FXN gene. Patients usually have early onset ataxia, areflexia, Babinski sign, scoliosis and pes cavus, but at least 25 % of cases have atypical phenotypes. Disease begins after the age of 25 in occasional patients (late-onset Friedreich ataxia (LOFA)). Little is known about the frequency and...
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