Neuroacanthocytosis

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Abstract

History The term neuroacanthocytosis (NA) refers to a group of syndromes in which nervous system abnormalities occur together with acanthocytosis, i.e., contracted and deformed erythrocytes that show spikelike protrusions (Figure 26.1). This description has been used to refer to a number of genetically distinct disorders, hence use of the term can be somewhat confusing and imprecise.There are two broad groups of NA disorders. The present chapter refers to those in which there is neurodegeneration of the basal ganglia, resulting in the development of movement disorders, with prominent cognitive impairment and psychiatric features. The “core” NA syndromes can now be classified as autosomal recessive chorea-acanthocytosis (ChAc), due to mutation of VPS13A [1–3], and X-linked McLeod syndrome (MLS), due to mutation of the XK gene on the X chromosome [4]. Despite being caused by distinct genes, whose functions appear to be unrelated, these two disorders share a number of similarities, including central and peripheral nervous system manifestations, hepatosplenomegaly and acanthocytosis. This striking phenotypic overlap has resulted in confusion in the literature. In this chapter the two disorders are discussed together, with emphasis upon the distinctive features of each.It could be argued that “chorea-acanthocytosis” is an inaccurate term as neither chorea nor acanthocytosis is a necessary or invariant feature of the disorder. However, we find this term preferable as it is now associated with a single genetically defined disorder, whereas “neuroacanthocytosis” has historically been a diagnostically imprecise term.

Original languageEnglish
Title of host publicationUncommon Causes of Movement Disorders
PublisherCambridge University Press
Pages282-289
Number of pages8
ISBN (Electronic)9780511977749
ISBN (Print)9780521111546
DOIs
StatePublished - 1 Jan 2011

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