Neuroacanthocytosis: clinical, radiological, and neurophysiological findings in an Italian family

Abstract

We have studied three members of a family (mother and two siblings) where the mother and father were first cousins and who presented a history of progressive mental deterioration, hyperkinetic extrapyramidal disorders, and epileptic seizures. They underwent the following examinations: cupremia, cupruria, and level of ceruloplasmin, genetic analysis for SCA1, 2, 3, 6, dentato-rubric-pallido-luysian atrophy, and Huntington's disease, electromyography (EMG), electroencephalography (EEG), brain magnetic resonance imaging (MRI), and investigation of acanthocytes with scanning electron microscopy. Genetic analysis was negative in all patients and acanthocytes were positive. EMG showed an axonal neuropathy in one sibling, EEG showed epileptiform activity in the two siblings, and MRI showed cortical atrophy in all subjects. This family shows the great variability of neuroacanthocytosis and a dominant autosomal transmission, as described only once previously in the literature.