Author/Authors :
Karkheiran, Siamak tehran university of medical sciences tums - Rasool Akram Hospital - Movement Disorders Clinic, تهران, ايران , Bader, Benedikt Klinikum der Universitat Munchen - Neurologische Klinik und Poliklinik, Germany , Roohani, Mohammad tehran university of medical sciences tums - Rasool Akram Hospital - Movement Disorders Clinic, تهران, ايران , Roohani, Mohammad tehran university of medical sciences tums - Rasool Akram Hospital - Departmentof Neurology, تهران, ايران , Danek, Adrian Klinikum der Universitat Munchen - Neurologische Klinik und Poliklinik, Germany , Shahidi, Gholam Ali tehran university of medical sciences tums - Rasool Akram Hospital - Movement Disorders Clinic, تهران, ايران , Shahidi, Gholam Ali tehran university of medical sciences tums - Rasool Akram Hospital - Departmentof Neurology, تهران, ايران
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
Keywords :
Acanthocytosis , chorea , acanthocytosis , feeding dystonia , trunk flexion
