title: Chorea-acanthocytosis: report of three cases from Iran.
abstract: Chorea-acanthocythosis (ChAc) is an inherited neurodegenerative disorder characterized by movement disorders, neuropsychiatric disturbances, neuropathy, myopathy, seizures and acanthocytosis accompanied by an elevated serum creatine kinase (CK) level. Its causative gene (VPS13A) produces chorein which is absent in ChAc patients as evaluated by Western blot assay. We report the first three Iranian patients whose disease has been confirmed by chorein Western blot. Our cases presented with heterogeneous courses of ChAc. A high sense of clinical awareness in approaching patients with deteriorating and/or multiple abnormal movements that are accompanied by other neurological signs such as neuropathy, myopathy, seizures and high serum CK level will support an early diagnosis of this disease. We also emphasize on the presence of axial flexion/extension spasms as a good clinical sign for narrowing differential diagnosis.
authors.affiliation: Movement Disorders Clinic, Rasool Akram Hospital, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Siamak
authors.initials: S
authors.lastname: Karkheiran
authors.forename: Benedikt
authors.initials: B
authors.lastname: Bader
authors.forename: Mohammad
authors.initials: M
authors.lastname: Roohani
authors.forename: Adrian
authors.initials: A
authors.lastname: Danek
authors.forename: Gholam Ali
authors.initials: GA
authors.lastname: Shahidi
mesh_terms: D000328:Adult; D003402:Creatine Kinase / Q000097:blood; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D054546:Neuroacanthocytosis / Q000175:diagnosis* / Q000503:physiopathology
chemical_list: D003402:Creatine Kinase