The Differential Diagnosis of Neuroacanthocytosis: An Overview

Abstract

The confusing term of neuroacanthocytosis refers to various entities simply defined by the presence of acanthocytosis plus a neurological disorder. In this chapter we will focus on the clinical differential diagnosis. There exist two distinguishable situations to remember: diseases with a primary progressive neurological disorder and systemic diseases with secondary and inconstant neurological symptoms or signs. Primary neurological diseases could then be subclassified in diseases with an abnormal lipid metabolism such as in abetalipoproteinemia and hypobetalipoproteinemia and in diseases without lipid abnormalities such as in chorea-acanthocytosis, in the McLeod syndrome, and in the Hallervorden-Spatz syndrome. The term neuroacanthocytosis should be reserved for the diseases without a lipid metabolism abnormality: Chorea-acanthocytosis and the McLeod syndrome. Besides the molecular biology, numerous clinical and laboratory indices, which are reviewed here, may help the clinician to make the differential diagnosis, particularly in distinction from Huntington’s disease or other movement disorders.