basal ganglia disease การใช้

• Mutations of the FTL gene cause the rare adult-onset basal ganglia disease also known as neuroferritinopathy ).
• Mutations in the SLC19A3 gene have been linked to Biotin-Thiamine Responsive Basal Ganglia Disease which is treated with pharmacological doses of thiamine and biotin, another B vitamin.
• Several diseases are associated with thiamine deficiency, including beriberi, Biotin-Thiamine-Responsive Basal Ganglia Disease, Wernicke-Korsakoff syndrome, and others ( see thiamine for a comprehensive listing ).
• Mutations in this gene cause biotin-responsive basal ganglia disease ( BBGD ); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated.
• There are many causes of childhood chorea, including cerebrovascular accidents, collagen vascular diseases, drug intoxication, hyperthyroidism, Wilson's disease, Huntington's disease, abetalipoproteinemia, Fahr disease, biotin-thiamine-responsive basal ganglia disease due to mutations in the SLC19A3 gene, Lesch-Nyhan syndrome, and infectious agents.
• Other disorders that may be accompanied by chorea include abetalipoproteinemia, ataxia-telangiectasia, biotin-thiamine-responsive basal ganglia disease, Fahr disease, familial dyskinesia-facial myokymia ( Bird-Raskind syndrome ) due to an ADCY5 gene mutation, glutaric aciduria, Lesch-Nyhan syndrome, mitochondrial disorders, Wilson disease, hyperthyroidism, lupus erythematosus, pregnancy ( chorea gravidarum ), and side effects of certain anticonvulsants or psychotropic agents.