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  • Title: Early onset cerebellar ataxia with retained tendon reflexes: foot deformity in a first grade family member.
    Author: Schelhaas HJ, Hulst MV, Ippel E, Prevo RL, Hageman G.
    Journal: Clin Neurol Neurosurg; 1999 Dec; 101(4):253-5. PubMed ID: 10622455.
    Abstract:
    Early onset cerebellar ataxia with retained tendon reflexes (EOCA) is a clinical syndrome characterised by progressive cerebellar ataxia with an onset before the age of 25 years and a wide spectrum of associated features. It is distinguished from Friedreich's ataxia (FA) mainly by the preservation of tendon reflexes, a better prognosis, and the absence of GAA expansion in the frataxin gene. Although EOCA is thought to be a hereditary disorder with an autosomal recessive mode of inheritance, genetic heterogeneity might underlie the spectrum of clinical features. In this case report we describe a patient with EOCA accompanied by pes cavus, hammer toes and peripheral neuropathy. The patient's father did not have any ataxia, but had the same foot deformities as his daughter and a slight peripheral neuropathy. The possible relationship between these clinical features is discussed.
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