The neuropsychiatry of neuroacanthocytosis syndromes

The neuroacanthocytoses are a group of disorders characterised by peripheral blood acanthocytes, central nervous system as well as neuromuscular symptoms. These disorders uniformly result in pathology in the basal ganglia, which account for the characteristic motor symptoms such as chorea or dystonia, but may also account for the apparent elevated rates of major mental disorders in these syndromes. Elevated rates of dysexecutive syndromes, obsessive–compulsive disorder, depression and schizophrenia-like psychosis appear to occur in chorea-acanthocytosis, McLeod's syndrome, pantothenate kinase-associated neurodegeneration, and Huntington's disease-like 2. Disruptions to key frontostriatal loops secondary to pathology in the striatum and pallidum appear to predispose individuals to major neuropsychiatric syndromes; however, treatment can be instituted for a number of these manifestations, which lessens the overall burden of disease in neuroacanthocytosis patients and their families.

Research highlights
► The neuroacanthocytoses affect central nervous system and peripheral blood structures.
► These disorders impact on striatal structures, particularly the caudate nucleus.
► Resultant disruption to critical frontal-subcortical loops results in a dysexecutive syndrome in many patients.
► The high base rate of obsessive–compulsive disorder and other mental illnesses may also be secondary to fronto-striatal changes.