Early onset cerebellar ataxia with retained tendon reflexes: foot deformity in a first grade family member

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 o...

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Bibliographic Details
Published in:	Clinical neurology and neurosurgery Vol. 101; no. 4; pp. 253 - 255
Main Authors:	Schelhaas, H.J, Hulst, M.v.d, Ippel, E, Prevo, R.L, Hageman, G
Format:	Journal Article Conference Proceeding
Language:	English
Published:	Amsterdam Elsevier B.V 01-12-1999 Elsevier Science
Subjects:	Adult Age of Onset Biological and medical sciences Cerebellar Ataxia - complications Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Early onset cerebellar ataxia EOCA FARR Female Foot Deformities, Acquired - etiology Foot Deformities, Acquired - physiopathology Friedreich’s ataxia Gait Humans Medical sciences Neurology Reflex, Stretch EOCA Friedreich’s ataxia Early onset cerebellar ataxia FARR Human Nervous system diseases Deformation Tendon reflex Family study Cerebellar ataxia Diseases of the osteoarticular system Lower limb Peripheral neuropathy Cerebral disorder Genetic disease Foot Chemotherapy Phenotype Cerebellar disease Age of onset Central nervous system disease Young adult Female Early Degenerative disease Peripheral nerve disease
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Summary:	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.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0303-8467 1872-6968
DOI:	10.1016/S0303-8467(99)00051-7