Friedreich's ataxia in the south of Italy: a clinical and biochemical survey of 23 patients.
We report a clinical and biochemical survey of 23 patients with Friedreich's ataxia from southern Italy. They were studied clinically and by means of a clinical rating scale devised by us (Inherited Ataxias Clinical Rating Scale). Laboratory tests, based on the Quebec Cooperative Study, were also performed on our patients. No major clinical or biochemical differences were found between Italian and Canadian patients. Investigation of CSF monoamine metabolites showed that HVA decreased after probenecid and metoclopramide loading.
D000293:Adolescent; D000328:Adult; D002648:Child; D003937:Diagnosis, Differential; D004562:Electrocardiography; D004569:Electroencephalography; D005260:Female; D005621:Friedreich Ataxia / Q000097:blood / Q000134:cerebrospinal fluid / Q000175:diagnosis*; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis; D007558:Italy; D008297:Male; D009048:Motor Skills; D010300:Parkinson Disease / Q000175:diagnosis