{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T16:07:44Z","timestamp":1783440464752,"version":"3.54.6"},"reference-count":15,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>Friedreich's ataxia (FRDA) is an autosomal recessive inherited disorder characterised by progressive gait and limb ataxia, dysarthria, areflexia, loss of position sense and a progressive motor weakness of central origin. Some observations indicate that all symptoms of FRDA ataxia could be the manifestation of a thiamine deficiency because of enzymatic abnormalities. Two patients with FRDA were under rehabilitative treatment from February 2012 to February 2013. The scale for assessment and rating of ataxia was performed. The patient began an intramuscular therapy with 100\u2005mg of thiamine every 3\u20135 \u2005days. Injection of high-dose thiamine was effective in reversing the motor failure. From this clinical observation, it is reasonable to infer that a thiamine deficiency due to enzymatic abnormalities could cause a selective neuronal damage in the centres that are typically affected by this disease.<\/jats:p>","DOI":"10.1136\/bcr-2013-009424","type":"journal-article","created":{"date-parts":[[2013,5,23]],"date-time":"2013-05-23T08:55:26Z","timestamp":1369299326000},"page":"bcr2013009424","source":"Crossref","is-referenced-by-count":15,"title":["High-dose thiamine improves the symptoms of Friedreich's ataxia"],"prefix":"10.1136","volume":"2013","author":[{"given":"Antonio","family":"Costantini","sequence":"first","affiliation":[{"name":"Department of Neurological Rehabilitation, Villa Immacolata, Viterbo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafaela","family":"Giorgi","sequence":"additional","affiliation":[{"name":"Department of Neurological Rehabilitation, Villa Immacolata, Viterbo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia","family":"D'Agostino","sequence":"additional","affiliation":[{"name":"Department of Neurological Rehabilitation, Villa Immacolata, Viterbo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Immacolata","family":"Pala","sequence":"additional","affiliation":[{"name":"Department of Neurological Rehabilitation, Villa Immacolata, Viterbo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2013,5,22]]},"reference":[{"key":"2025082702131651000_2013.may22_1.bcr2013009424.1","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1242\/dmm.008706","article-title":"Understanding the genetic and molecular pathogenesis of Friedreich's ataxia through animal and cellular models","volume":"2013","author":"Martelli","year":"2012","journal-title":"Dis Model Mech"},{"key":"2025082702131651000_2013.may22_1.bcr2013009424.2","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1212\/WNL.0b013e31821043a4","article-title":"Fatigue in spinocerebellar ataxia: patient self assessement of an early and disabling symptom","volume":"2013","author":"Brusse","year":"2011","journal-title":"Neurology"},{"key":"2025082702131651000_2013.may22_1.bcr2013009424.3","doi-asserted-by":"crossref","unstructured":"Costantini A Pala MI Colangeli M . Thiamine and spinocerebellar ataxia type 2. BMJ Case Rep 2013. 2013","DOI":"10.1136\/bcr-2012-007302"},{"key":"2025082702131651000_2013.may22_1.bcr2013009424.4","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1136\/jnnp.55.2.136","article-title":"Thiamine status in inherited degenerative ataxias","volume":"2013","author":"Pedraza","year":"1992","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2025082702131651000_2013.may22_1.bcr2013009424.5","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1017\/S0317167100052811","article-title":"Biogenic metabolites and thiamine in cerebrospinal fluid in heredo-degenerative ataxias","volume":"2013","author":"Botez","year":"2001","journal-title":"Can J Neurol Sci"},{"key":"2025082702131651000_2013.may22_1.bcr2013009424.6","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1002\/mds.870110415","article-title":"Brain levels of thiamine and its phosphate esters in Friedreih's ataxia and spinocerebellar ataxia type 1","volume":"2013","author":"Bettendorff","year":"1996","journal-title":"Mov Disord"},{"key":"2025082702131651000_2013.may22_1.bcr2013009424.7","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1017\/S0317167100025634","article-title":"Pyruvate metabolism in Friedreich's ataxia","volume":"2013","author":"Barbeau","year":"1976","journal-title":"Can J Neurol Sci"},{"key":"2025082702131651000_2013.may22_1.bcr2013009424.8","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1136\/jnnp.44.7.574","article-title":"Biochemical and clinical studies in Friedreich's ataxia","volume":"2013","author":"Purkiss","year":"1981","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2025082702131651000_2013.may22_1.bcr2013009424.9","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1136\/jnnp.47.1.111","article-title":"Biochemical vitamin deficiences in Friedreich's ataxia","volume":"2013","author":"Gledhill","year":"1984","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2025082702131651000_2013.may22_1.bcr2013009424.10","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1093\/ecam\/nek009","article-title":"A review of the biochemistry, metabolism and clinical benefits of thiamin (e) and its derivatives","volume":"2013","author":"Lonsdale","year":"2006","journal-title":"Evid Based Complement Altern Med"},{"key":"2025082702131651000_2013.may22_1.bcr2013009424.11","doi-asserted-by":"crossref","first-page":"846","DOI":"10.1136\/jnnp.2007.136630","article-title":"Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy","volume":"2013","author":"Sedel","year":"2008","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2025082702131651000_2013.may22_1.bcr2013009424.12","doi-asserted-by":"crossref","first-page":"1792","DOI":"10.1056\/NEJMc0809100","article-title":"Mutation in a thiamine-transporter gene and Wernicke's-like encephalopathy","volume":"2013","author":"Kono","year":"2009","journal-title":"N Engl J Med"},{"key":"2025082702131651000_2013.may22_1.bcr2013009424.13","doi-asserted-by":"crossref","first-page":"1605","DOI":"10.1089\/ars.2007.1766","article-title":"Thiamine-dependent processes and treatment strategies in neurodegeneration","volume":"2013","author":"Gibson","year":"2007","journal-title":"Antioxid Redox Signal"},{"key":"2025082702131651000_2013.may22_1.bcr2013009424.14","unstructured":"World Health Organization. Thiamine deficiency and its prevention and control in major emergencies. Report no: WHO\/NHD\/99.13. Geneva: Department of Nutrition for Heath and Development, WHO, 1999:10\u201311."},{"key":"2025082702131651000_2013.may22_1.bcr2013009424.15","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/1472-6904-12-4","article-title":"Pharmacokinetics of high-dose oral thiamine hydrochloride in healthy subjects","volume":"2013","author":"Smithline","year":"2012","journal-title":"BMC Clin Pharmacol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2013-009424","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T09:13:24Z","timestamp":1756286004000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2013-009424"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5,22]]},"references-count":15,"alternative-id":["10.1136\/bcr-2013-009424"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2013-009424","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,5,22]]}}}