choreoacanthocytosis

choreoacanthocytosis
cho·reo·acan·tho·cy·to·sis (kor″e-o-ə-kan″tho-si-toґsis) [choreo- + acanthocytosis] an autosomal recessive syndrome caused by mutations in the VPS13A gene (locus: 9q21), which encodes a protein of unknown function; it is characterized by tics, chorea, and personality changes, with acanthocytes in the blood. Called also neuroacanthocytosis.

Medical dictionary. 2011.

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