Neuroacanthocytosis

The term neuroacanthocytosis describes a group of phenotypically and genetically heterogeneous disorders, and thus has long been a source of confusion and diagnostic imprecision. It is vital to distinguish between the lipoprotein deficiency disorders which affect gait, but do not cause movement disorders or neuropsychiatric problems, and the diseases described here, of which these are characteristic features. This review summarizes the current state of knowledge regarding this group of diseases in order to facilitate clinical recognition, accurate diagnosis and appropriate management.

Advances in molecular medicine have enabled us to distinguish precisely among the disorders described under the label of neuroacanthocytosis, most notably between autosomal recessive chorea-acanthocytosis and the X-linked McLeod syndrome. This has facilitated appreciation of the range of phenotypes in each of the various conditions. Acanthocytosis is also found in a smaller percentage of cases with pantothenate kinase-associated neurodegeneration (PKAN) and Huntington's disease-like 2 (HDL2). An improved method of determination of acanthocytosis has been described, which if adopted as standard practice may facilitate detection of these conditions.

Genetic testing has led to increased diagnostic accuracy of the neuroacanthocytosis syndromes, which is essential to extend recognition of these disorders, as well as to improve understanding of the disease process. Most importantly, given the absence of a cure, it is vital for appropriate genetic counselling. Treatments, as in other neurodegenerative conditions, are at present limited to symptomatic therapies.