title: Early onset cerebellar ataxia with retained tendon reflexes: foot deformity in a first grade family member.
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.
authors.affiliation: Department of Neurology and Radiology, Medisch Spectrum Twente, Enschede, The Netherlands.
authors.forename: H J
authors.initials: HJ
authors.lastname: Schelhaas
authors.forename: M V
authors.initials: MV
authors.lastname: Hulst
authors.forename: E
authors.initials: E
authors.lastname: Ippel
authors.forename: R L
authors.initials: RL
authors.lastname: Prevo
authors.forename: G
authors.initials: G
authors.lastname: Hageman
mesh_terms: D000328:Adult; D017668:Age of Onset; D002524:Cerebellar Ataxia / Q000150:complications*; D005260:Female; D005531:Foot Deformities, Acquired / Q000209:etiology* / Q000503:physiopathology; D005684:Gait; D006801:Humans; D012026:Reflex, Stretch