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.³

Case reports

Case 1

This patient was briefly described as case 19 in the report of Danek et al.⁴ He was a 61 year old white male who had been well until 3 years previously, when he took early retirement from teaching owing to "disillusionment". He subsequently developed a progressive dementing illness, associated with facial tics, grunting noises, dysarthria, and chorea over the subsequent 3 years. There was no family history of neurodegenerative disease. He first presented to a neurologist having had an isolated generalised tonic−clonic seizure. On examination, he had a frontal dementia (Mini Mental State Examination (MMSE) score …