Chorea-Acanthocytosis. Neuroacanthocytosis. Levine-Critchley syndrome.
Incidence
This is an hereditary disorder of uncertain modus of transmission. More than forty cases has been observed. Some asymptomatic relatives of these patients may have isolated acanthocytosis.
Clinical Characteristics
It is characterized by the association of chorea and other neurological signs with acanthocytosis of red blood cells. The mode of transmission is unknown. Onset is usually between eight and sixty years of age with a mean age of 32 years. It is a slowly progressive disorder and shows many variations in the clinical expression. Chorea is almost always present. Orofaciolingual and pharyngeal dyskinesias produce mark dysarthria and dysphagia. The neurological picture is sometimes more complex. Dystonic spasms, akinesia, and parkinsonian rigidity may occur. Uncontrollable vocalization, tic-like manifestation and biting of lips and tongue has been observed. Depressed deep tendon reflexes and distal muscle wasting has been seen in some patients. There seems to be axonal neuropathy present. One third of the patients have seizures. Mental deterioration is constant feature and psychiatric disturbances and personality changes are frequent. Neuroimaging studies sometimes show non specific signal abnormalities in the caudate and lenticular nuclei. Atrophy and hypometabolism of the caudate nuclei has been reported. Diagnosis. The hallmark of the disease is the presence of red blood cell acanthocytes. This anomaly of red blood cells is mild in some cases and may be overlooked. Some asymptomatic relatives of these patients may have isolated acanthocytosis. Serum lipoproteins are normal (which do not occur in abetalipoproteinemia, a condition that also has acanthocytosis). CPK may be elevated but muscles show no histological abnormalities. It has been suggested that an abnormal composition of fatty acids bound to membrane is responsible for the acanthocytosis. There is no specific treatment.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
The hallmark of the disease is the presence of red blood cell acanthocytes, but serum lipoproteins are normal (which do not occur in abetalipoproteinemia, a condition that also has acanthocytosis).