Diagnostic Difficulties in a Case With Spinocerebellar Ataxia

Abstract

Hereditary cerebellar ataxias can be divided into two main categories as early onset andlate onset. The early onset group consists of Friedreich's Ataxia (FA) and early OnsetCerebellar Ataxia (EOCA). EOCA is distinguished from FA in terms of retained reflexes. Incomparison to FA, in EOCA, upper limb ataxia and loss of joint position sense are lesssevere, and optic atrophy, scoliosis, cardiomyopathy, diabetes mellitus are less common. Additionally, severe sensory neuropathy in electrophysiologic study is specific to FA.Characteristics that fitted both to FA and EOCA were seen in the clinical and laboratoryresearches of a 14-year-old patient. Though absence of sensory potentials reminded of FA, presence of retained reflexes was reminding EOCA. Therefore, genetic research was essential to make a certain diagnosis of the patient whose clinical diagnosis gave contradictory clues.