White matter abnormalities on MRI in neuroacanthocytosis

Neuroacanthocytosis denotes a group of uncommon heterogenous neurodegenerative disorders associated with acanthocytosis in the absence of any lipid abnormality. A variety of modes of inheritance have been proposed (X linked and autosomal recessive are clearly described, but a recent report of dominantly inherited chorea acanthocytosis1 appears to be caused by Huntington’s disease-like type 2 expansions in the junctophilin-3 gene2) and mutations in two genes have been identified, the XK gene (in the X linked McLeod phenotype) and the CHAC gene (9q21; autosomal recessive)3. A wide variety of clinical features including chorea, orofaciolingual dyskinesia, dysphagia, dysarthria, peripheral neuropathy, myopathy, seizures, and dementia has been described in these disorders.