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Jeffrey Ralph, MD
Section Editor
Michael J Aminoff, MD, DSc
Deputy Editor
Janet L Wilterdink, MD


Neuroacanthocytosis refers to a group of rare diseases that share the features of central nervous system degeneration, neuromuscular manifestations, and acanthocytosis on a peripheral blood smear.

An acanthocyte is a spiculated form of a red blood cell (picture 1). The name is derived from the Greek word (acantha) for thorn. It should be differentiated from the echinocyte, which has more numerous, uniform, and finer spiny projections and is associated with severe renal and liver disease.

Acanthocytes may be seen in a variety of diseases, including severe liver disease. In neuroacanthocytosis, the degree of neurologic impairment does not correlate with the degree of acanthocytosis on the smear.  

The general category of neuroacanthocytosis includes abetalipoproteinemia, chorea-acanthocytosis, and McLeod syndrome. Acanthocytes appear more variably in pantothenate kinase-associated neurodegeneration and in Huntington disease-like 2. These disorders are discussed here. Acanthocytosis in liver and other systemic disease is discussed separately. (See "Causes of spiculated cells (echinocytes and acanthocytes) and target cells", section on 'Echinocytes and acanthocytes'.)


Abetalipoproteinemia, also known as Bassen-Kornzweig disease, is an autosomal recessive disorder caused by mutations encoding the microsomal triglyceride transfer protein (MTP) [1-4]. This protein is essential for the formation and eventual secretion of apolipoprotein B-containing lipoproteins, both from the intestine (chylomicrons) and liver (LDL and VLDL). Chylomicron formation is necessary for absorption and initial transport of the fat-soluble vitamins.


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Literature review current through: Sep 2016. | This topic last updated: Aug 4, 2015.
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