Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0016719 (Friedreich's ataxia)
 2,098 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
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PMID:Friedreich's ataxia in the south of Italy: a clinical and biochemical survey of 23 patients. 645 93

Three cases of Friedreich's ataxia were submitted to diverse neuroradiological procedures in order to determine the extent of atrophic processes in the central nervous system. All patients underwent computerized-tomography scan, Magnetic Resonance Imaging, and HMPA-single Photon emission computerized tomography studies, focusing in cerebellar lobes. A slight atrophy was observed in the vermis and the cerebellar lobes with CT scan and MRI. In contrast a significant decrease in cerebellar blood flow was shown by TC-HMPAE SPECT study. The significance of these findings in understanding physiopathological mechanisms in Friedreich's ataxia is discussed.
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PMID:Decrease in cerebellar blood flow in patients with Friedreich's ataxia: A TC-HMPAO SPECT study of three cases. 787 Feb 72