Laboratory investigations

Abstract

This chapter deals with chemical and hematologic investigations which are often considered in the diagnostic workup of subacute to chronic cerebellar ataxias. Relevant investigations in blood (serum, plasma), urine, and cerebrospinal fluid are discussed. Particular attention is paid to early diagnosis of treatable metabolic ataxias (such as abetalipoproteinemia, coenzyme Q10 deficiency, cerebrotendinous xanthomatosis, glucose transporter type 1 deficiency, Refsum disease, and vitamin E deficiency), but autoimmune ataxias, other vitamin deficiencies, and endocrine disorders should also be kept in mind. Adequate interpretation of test results has to consider age-specific reference values. The selection of investigations should mainly be driven by the overall clinical context, considering gender, history, age, and mode of presentation, cerebellar and other neurologic as well as extraneurologic findings.

Keywords: acquired ataxia; autoimmune ataxia; diagnostic workup; hereditary ataxia; laboratory investigations; treatable ataxia.