{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T12:02:01Z","timestamp":1756382521867},"reference-count":9,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Neurology, Neurosurgery & Psychiatry"],"published-print":{"date-parts":[[1984,1,1]]},"DOI":"10.1136\/jnnp.47.1.111","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T21:16:40Z","timestamp":1226351800000},"page":"111-112","source":"Crossref","is-referenced-by-count":2,"title":["Biochemical vitamin deficiencies in Friedreich's ataxia."],"prefix":"10.1136","volume":"47","author":[{"given":"R F","family":"Gledhill","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Labadarios","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","reference":[{"key":"ref_1","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":"44","year":"1981","unstructured":"Purkiss P, Baraitser M, Borud 0, Chalmers RA. Biochemical and clinical studies in Friedreich's ataxia. J Neurol Neurosurg Psychiatry 1981;44:574-80.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"ref_2","article-title":"Biochemical vitamin deficiences in Friedchronic thiamin deficiency in patient CI 2 Barbeau A. Pathophysiology of Friedreich's reich's ataxia and acute-on-chronic deficiency in patient ataxia","author":"Mathews, W.B.","unstructured":"Biochemical vitamin deficiences in Friedchronic thiamin deficiency in patient CI 2 Barbeau A. Pathophysiology of Friedreich's reich's ataxia and acute-on-chronic deficiency in patient ataxia. In: Mathews WB, Glaser GH, eds."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1093\/brain\/104.3.589","article-title":"Friedreich's Ataxia: A Clinical and Generic study of 90 Families with an Analysis of Early Diagnostic Criteria and Intrafamilial Clustering of Clinical Features","volume":"104","author":"Harding, A.E.","year":"1981","unstructured":"Harding AE. Friedreich's Ataxia: A Clinical and Generic study of 90 Families with an Analysis of Early Diagnostic Criteria and Intrafamilial Clustering of Clinical Features. Brain 1981;104:589-620.","journal-title":"Brain"},{"key":"ref_4","first-page":"619","article-title":"acid values, which were also indicative of peroneal muscular atrophy. II. Neurologic, Our patients were a 23-year-old coldeficiency at the time of admission","volume":"18","author":"addioured male (GI","year":"1968","unstructured":"acid values, which were also indicative of peroneal muscular atrophy. II. Neurologic, Our patients were a 23-year-old coldeficiency at the time of admission. In addioured male (GI) and his 22-year-old sister tion, dietary analysis revealed that vitamin (CI). Each patient fulfilled recommended intake in both patients was less than that clinical criteria for the diagnosis of Friedrecommended. (Details are obtainable genetic and electrophysiological findings in various neuronal degenerations. Arch Neurol 1968;18:619-25.","journal-title":"Arch Neurol; and his 22-year-old sister tion, dietary analysis revealed that vitamin (CI). Each patient fulfilled recommended intake in both patients was less than that clinical criteria for the diagnosis of Friedrecommended. (Details are obtainable genetic and electrophysiological findings in various neuronal degenerations"},{"key":"ref_5","first-page":"20","article-title":"Evoked Potential Abnormalities in reich's ataxia.23 Their clinical deficits were from Dr D Labadarios, PO Box 63, Tygerthe Various Inherited Ataxias. Ann Neurol similar in severity (Group 1 of Dyck and","volume":"13","author":"Nuwer, M.R.; Perlman, S.L.; Packwood, J.W.; Kark, R.A.P.","year":"1983","unstructured":"Nuwer MR, Perlman SL, Packwood JW, Kark RAP. Evoked Potential Abnormalities in reich's ataxia.23 Their clinical deficits were from Dr D Labadarios, PO Box 63, Tygerthe Various Inherited Ataxias. Ann Neurol similar in severity (Group 1 of Dyck and berg, 7505, South Africa). 1983;13:20-7."},{"key":"ref_6","first-page":"283","article-title":"Lambert4) and extent. Symptoms of Whether dietary deficiency was opera-6 Pedersen L, Trojaborg W. Visual, auditory and neurologic disorder had been noticed by GI since the age Qf 14 years and by CI since the age of 15. In both patients, electrophysiological studies confirmed the presence of peripheral neuropathy and revealed abnormalities of visualand tive in the patients of Purkiss et al. ' cannot be judged from their published data. At all events, their findings and those reported here would seem sufficient reasons for further studies on the vitamin status of patients with Friedreich's ataxia. The somatosensory pathway involvement in hereditary cerebellar ataxia, Friedreich's ataxia and familial spastic paraplegia","volume":"52","year":"1981","unstructured":"Lambert4) and extent. Symptoms of Whether dietary deficiency was opera-6 Pedersen L, Trojaborg W. Visual, auditory and neurologic disorder had been noticed by GI since the age Qf 14 years and by CI since the age of 15. In both patients, electrophysiological studies confirmed the presence of peripheral neuropathy and revealed abnormalities of visualand tive in the patients of Purkiss et al. ' cannot be judged from their published data. At all events, their findings and those reported here would seem sufficient reasons for further studies on the vitamin status of patients with Friedreich's ataxia. The somatosensory pathway involvement in hereditary cerebellar ataxia, Friedreich's ataxia and familial spastic paraplegia. Electroencephalogr Clin Neurophysiol 1981;52:283-97.","journal-title":"Electroencephalogr Clin Neurophysiol"},{"key":"ref_7","first-page":"183","article-title":"Watersoluble vitamins in severe liver disbrainstem auditory6 evoked potentials. detection of thiamin deficiency and its corease","volume":"54","author":"Rossouw, J.E.; Labadarios, D.; Davis, M.; Williams, R.","year":"1978","unstructured":"Rossouw JE, Labadarios D, Davis M, Williams R. Watersoluble vitamins in severe liver disbrainstem auditory6 evoked potentials. detection of thiamin deficiency and its corease. S Afr Med J 1978;54:183-6.","journal-title":"S Afr Med J"},{"key":"ref_8","first-page":"624","article-title":"Red cell transketolase, TPP effect, rection may be of special importance in 8Nichoalds GE. Assessment of status of nicotinic acid, vitamin B6 and ascorbic acid these patients, given the cofactor function riboflavin nutriture by assay of erythrocyte were determined according to previously of thiamin for pyruvate dehydrogenase, the published methods.7 Serum and red cell role of this enzyme in energy metabolism, glutathione reductase activity","volume":"20","year":"1974","unstructured":"Red cell transketolase, TPP effect, rection may be of special importance in 8Nichoalds GE. Assessment of status of nicotinic acid, vitamin B6 and ascorbic acid these patients, given the cofactor function riboflavin nutriture by assay of erythrocyte were determined according to previously of thiamin for pyruvate dehydrogenase, the published methods.7 Serum and red cell role of this enzyme in energy metabolism, glutathione reductase activity. Clin Chem 1974;20:624-8.","journal-title":"Clin Chem"},{"key":"ref_9","article-title":"In our group of patients, direct blood vitamin assays were not performed nor was a dietary vitamin analysis made. Thiamine status was assessed by measurements of erythrocyte transketolase activity and the effect of thiamine on this enzyme","unstructured":";44:574-80). In our group of patients, direct blood vitamin assays were not performed nor was a dietary vitamin analysis made. Thiamine status was assessed by measurements of erythrocyte transketolase activity and the effect of thiamine on this enzyme."}],"container-title":["Journal of Neurology, Neurosurgery & Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jnnp.47.1.111","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,26]],"date-time":"2020-09-26T04:03:03Z","timestamp":1601092983000},"score":1,"resource":{"primary":{"URL":"https:\/\/jnnp.bmj.com\/lookup\/doi\/10.1136\/jnnp.47.1.111"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,1,1]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1984,1,1]]}},"URL":"https:\/\/doi.org\/10.1136\/jnnp.47.1.111","relation":{},"ISSN":["0022-3050"],"issn-type":[{"value":"0022-3050","type":"print"}],"subject":[],"published":{"date-parts":[[1984,1,1]]}}}