chorea-acanthocytosis

cho·re·a-a·can·tho·cy·to·sis

a slowly progressive familial chorea with associated mental deterioration, diminished deep tendon reflexes, bilateral atrophy of the putamen and caudate nuclei and acanthocytosis (thorny appearance of blood erythrocytes); the disorder typically begins around late adolescence; inheritance is usually autosomal recessive.
References in periodicals archive ?
Chorea-acanthocytosis is an autosomal recessive, progressive disease, for which the neurological symptoms start in the 20s.
We diagnosed chorea-acanthocytosis by considering the other clinical features of the patient who had no MRI findings of the eye of the tiger, no cardiac manifestations, no family history with CK elevations.
Chorea-acanthocytosis is a subtype of the core neuroacanthocytosis group.
Chorea-acanthocytosis is autosomal recessively inherited.
Considering the age of complaint onset, absence of any known cardiac involvement, absence of similar complaints in family members, ENMG findings compliant with sensory-motor type neuropathy and accompanying areflexia, the presence of generalized tonicclonic type seizures, our case was determined to indicate chorea-acanthocytosis, which is a neurodegenerative neuroacanthocytosis subgroup.
In most of the patients with chorea-acanthocytosis, choreatype movement disorders, orofacial lingual dyskinesia, and limb dystonia are commonly observed, whereas parkinsonism findings are rather rare.
Autosomal dominant chorea-acanthocytosis with polyglutamine-contai-ning neuronal inclusions.
Increased membrane protein phosphorylation and anion transport activity in chorea-acanthocytosis.