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.
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
タイトル
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
