[Therapeutic developments in chronic ataxias].
Autosomal recessive cerebellar ataxias belong to a broader group of disorders known as inherited ataxias. In most cases onset occurs before the age of 20. These neurological disorders are characterized by degeneration or abnormal development of the cerebellum and spinal cord. Currently, specific treatment is only available for some of the chronic ataxias, more specifically those related to a known metabolic defect, such as abetalipoproteinemia, ataxia with vitamin E deficiency, and cerebrotendinous xanthomatosis. Treatment based on a diet with reduced intake of fat, supplementation of oral vitamins E and A, and the administration of chenodeoxycholic acid could modify the course of the disease. Although for most of autosomal recessive ataxias there is no definitive treatment, iron chelators and antioxidants have been proposed to reduce the mitochondrial iron overload in Friederich's ataxia patients. Corticosteroids have been used to reduce ataxia symptoms in ataxia telangiectasia. Coenzyme Q10 deficiency associated with ataxia may be responsive to Co Q10 or ubidecarenone supplementations. Early treatment of these disorders may be associated with a better drug response.
Servicio de Neurología Infantil, Hospital de Pediatría Prof. Dr. J. P. Garrahan, Buenos Aires. E-mail: mcelestebuompa@hotmail.com.
María Celeste
MC
Buompadre
D000305:Adrenal Cortex Hormones / Q000627:therapeutic use; D001259:Ataxia / Q000188:drug therapy; D002524:Cerebellar Ataxia / Q000188:drug therapy* / Q000209:etiology; D002908:Chronic Disease; D005621:Friedreich Ataxia / Q000188:drug therapy; D006801:Humans; D033862:Iron-Binding Proteins / Q000502:physiology; D028361:Mitochondrial Diseases / Q000188:drug therapy; D018908:Muscle Weakness / Q000188:drug therapy; D014451:Ubiquinone / Q000172:deficiency; D014810:Vitamin E / Q000627:therapeutic use; D014811:Vitamin E Deficiency / Q000150:complications; D000096923:Frataxin
D000305:Adrenal Cortex Hormones; D033862:Iron-Binding Proteins; D014451:Ubiquinone; D014810:Vitamin E; D000096923:Frataxin
antioxidant agents; cerebellar ataxia; corticosteroid; treatment; vitamin