Choreoacanthocytosis (CHAC) is a type of neuroacanthocytosis, a heterogeneous group of hereditary syndromes characterized by the association of neurologic abnormalities with acanthocytic red blood cells. This disease caused by a variety of mutations in the VPS13A gene. The inheritance is mainly autosomal recessive, although apparent sporadic and autosomal dominant instances are also known. VPS13A gene encodes the chorein protein, which is thought to have a role in the change of cellular structures. CHAC is characterized by involuntary movements, cognitive decline, behavioral changes, seizures, and polyneuropathy. Oral-lingual dystonia is a noticeable feature, often resulting in mouth or tongue lacerations. Symptoms typically begin between 20 and 40 years of age, but earlier and later onset occurs as well.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
03 Diseases of the blood or blood-forming organs
Anaemias or other erythrocyte disorders
Haemolytic anaemias
Congenital haemolytic anaemia
3A10 Hereditary haemolytic anaemia
H01432 Choreoacanthocytosis
08 Diseases of the nervous system
Movement disorders
8A03 Ataxic disorders
H01432 Choreoacanthocytosis
Lossos A, Dobson-Stone C, Monaco AP, Soffer D, Rahamim E, Newman JP, Mohiddin S, Fananapazir L, Lerer I, Linetsky E, Reches A, Argov Z, Abramsky O, Gadoth N, Sadeh M, Gomori JM, Boher M, Meiner V
Title
Early clinical heterogeneity in choreoacanthocytosis.
Ruiz-Sandoval JL, Garcia-Navarro V, Chiquete E, Dobson-Stone C, Monaco AP, Alvarez-Palazuelos LE, Padilla-Martinez JJ, Barrera-Chairez E, Rodriguez-Figueroa EI, Perez-Garcia G
