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.
Farlex Partner Medical Dictionary © Farlex 2012
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.
Chorea-acanthocytosis (ChAc) is caused by mutations in the VPS13A gene.
To the best of our knowledge, a total of six patients suffering with chorea-acanthocytosis with MTS have been reported (Table 1).
Jalili, "Development of mesial temporal lobe epilepsy in chorea-acanthocytosis," Neurology, vol.
Grunseich et al., "Hippocampal sclerosis and mesial temporal lobe epilepsy in chorea-acanthocytosis: a case with clinical, pathologic, and genetic evaluation," Neuropathology and Applied Neurobiology, vol.
Increased membrane protein phosphorylation and anion transport activity in chorea-acanthocytosis. Haematologica.