Neurol Sci (2003) 24:188–189 DOI 10.1007/s10072-003-0123-1

Neuroacanthocytosis: clinical, radiological, and neurophysiological findings in an Italian family A.M. Marson1 () • E. Bucciantini1 • E. Gentile2 C. Geda1 1 2

Ospedale Civico, Chivasso, Italy Ospedale SS. Annunziata, Savigliano, Italy

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.

Neuroacanthocytosis has been described in the last few years as a familial chorea with slowly progressive dementia and hereditary abnormalities. It is characterized by: (1) onset in adolescence or early adulthood of involuntary generalized movements that generally start as oro-facial dyskinesia and spread to the wholebody; (2) mild mental deterioration in most but not all cases; (3) absent or attenuated tendon reflexes with signs of chronic axonal neuropathy and muscular atrophy due to denervation; (4) atrophy of the caudate nucleus and the putamen; (5) acanthocytosis. This last alteration seems to be due to an alterated composition of the fatty acids bound covalently to red blood cell membrane proteins. Hereditary transmission is autosomal recessive, except in one case described in New England. Mild acanthocytosis can not be detected without the use of a scanning electron microscope.

progressive mental deterioration, hyperkinetic extrapyramidal disorders, and epileptic seizures. They underwent the following examinations: cupremia, cupruria, level of ceruloplasmin, genetic analysis for SCA 1, 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.

Results Neurological examination showed tics, oro-facial dyskinesia, and dystonia of the limbs in all subjects; neuropsychological valutation showed a mild mental deterioration in all subjects. Cupremia, cupruria, level of ceruloplasmin, and all the genetic analyses were negative in all subjects. EMG showed a motor-sensitive axonal neuropathy in the female sibling. EEG showed bitemporal epileptiform activity in the two siblings, but not in the mother. MRI scans showed a hypointensity of the white matter in the T1-weighted images and a hyperintensity in the T2-weighted images, without enhancement with gadolinium in the parietal lobe of the male sibling. Global cerebral atrophy was observed in all subjects. Scanning electron microscopy revealed acanthocytes in all subjects. The siblings have been given antiepileptic therapy and neuroleptics, with a good control of epileptic seizures and sufficient control of involuntary movements at the beginning of treatment. However, there has been progression in the last year.

Conclusion The family described here shows the large spectrum of clinical, neuroradiological, and neurophysiological abnormalities that can be associated with neuroacanthocytosis and the possibility, described only once previously in the literature, of an autosomal dominant heredity. This variation in symptoms explains why neuroacanthocytosis is difficult to diagnose and, consequently, often remains underestimated.

References Materials and methods We studied three members of a family, mother (65 years old) and two siblings (1 male 38 years old and 1 female 39 years old), where mother and father were first cousins and who presented a history of

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