Neuroacanthocytosis

Introduction
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By William Stamey MD

Neuroacanthocytosis is also known as or subsumes Choreoacanthocytosis and McLeod syndrome. -ed.

Neuroacanthocytosis is a neurologic disorder characterized by both a broad spectrum of movement disorders and acanthocytes seen in peripheral blood smear. Behavioral and cognitive disturbances are common features. An autosomal recessive form and an X-linked form of inheritance have been described and present similar phenotypes with characteristic features. Neuroacanthocytosis must be considered in the differential diagnosis of patients presenting with movement disorders and behavioral/cognitive findings. Treatments, including deep brain stimulation, are met with various levels of success.

Key Points

  • Neuroacanthocytosis may be due to several causes.
  • Neuroacanthocytosis should be considered in the differential diagnosis of patients with neuropsychiatric symptoms and chorea or in adult onset tourettism.
  • A tongue-protrusion “feeding dystonia” is highly suggestive of neuroacanthocytosis.
  • A peripheral smear revealing 3% acanthocytes is considered positive, though in early cases, the smear may appear normal.
  • A variety of other neurologic symptoms may accompany neuroacanthocytosis, including seizures, motor neuron disease, and dementia.

In This Article

Introduction
Historical note and nomenclature
Clinical manifestations
Clinical vignette
Etiology
Pathogenesis and pathophysiology
Epidemiology
Prevention
Differential diagnosis
Diagnostic workup
Prognosis and complications
Management
Pregnancy
References cited
Contributors