title: Neuroacanthocytosis and carbamazepine responsive paroxysmal dyskinesias.
abstract: Neuroacanthocytosis (NA) comprises a genetically heterogeneous group of disorders characterized by dysfunction of the erythrocyte membrane, presenting with acanthocytes and several neurological manifestations. We report the case of a 42-year-old woman with NA who in addition had episodes consistent with paroxysmal dyskinesias. She was diagnosed with NA featuring mild chorea, weakness of the right lower extremity and myoclonic jerks. However, one year after onset she presented attacks of paroxysmal abnormal movements, consistent with paroxysmal kinesigenic dyskinesias. Carbamazepine markedly reduced the frequency and severity of the attacks. Our case illustrates that paroxysmal dyskinesias can be a hitherto unrecognized manifestation of neuroacanthocytosis responsive to carbamazepine.
authors.affiliation: Parkinson's Disease and Movement Disorders Program, Hospital de Clínicas "José de San Martín", University of Buenos Aires, 1062 Buenos Aires, Argentina.
authors.forename: Lorena
authors.initials: L
authors.lastname: Tschopp
authors.forename: Gabriela
authors.initials: G
authors.lastname: Raina
authors.forename: Zulema
authors.initials: Z
authors.lastname: Salazar
authors.forename: Federico
authors.initials: F
authors.lastname: Micheli
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use*; D002220:Carbamazepine / Q000627:therapeutic use*; D002819:Chorea / Q000150:complications* / Q000188:drug therapy*; D005260:Female; D006801:Humans; D008875:Middle Aged; D054546:Neuroacanthocytosis / Q000150:complications*
chemical_list: D000927:Anticonvulsants; D002220:Carbamazepine