{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T07:28:18Z","timestamp":1791098898203,"version":"4.1.0"},"reference-count":24,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Neurology, Neurosurgery &amp; Psychiatry"],"published-print":{"date-parts":[[1978,4,1]]},"DOI":"10.1136\/jnnp.41.4.323","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T21:02:42Z","timestamp":1226350962000},"page":"323-332","source":"Crossref","is-referenced-by-count":12,"title":["Clinicopathological study of Refsum's disease with particular reference to fatal complications."],"prefix":"10.1136","volume":"41","author":[{"given":"I V","family":"Allen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Swallow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N C","family":"Nevin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"McCormick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1136\/bmj.2.5093.415","article-title":"Refsum's syndrome affecting a brother and two sisters","volume":"2","author":"Ashenhurst, E.M.; Millar, J.H.D.; Milliken, T.G.","year":"1958","unstructured":"Ashenhurst, E. M., Millar, J. H. D., and Milliken, T. G. (1958). Refsum's syndrome affecting a brother and two sisters. British Medical Journal, 2, 415-417.","journal-title":"British Medical Journal"},{"key":"ref_2","first-page":"229240","article-title":"Sur la neuropathologie de la maladie de Refsum-Thiebaut","volume":"116","author":"Bogaert, L.van; Mechelen, P.van; Martin, J.J.; Guazzi, G.C.","year":"1967","unstructured":"Bogaert, L. van., Mechelen, P. van., Martin, J. J., and Guazzi, G. C. (1967). Sur la neuropathologie de la maladie de Refsum-Thiebaut. (Protocole de l'observation de Richterich Kahlke, van Mechelen et Rossi, 1963). Revue Neurologique, Paris, 116, 229240.","journal-title":"Revue Neurologique, Paris"},{"key":"ref_3","first-page":"617","article-title":"Om de anatomiske funn i to tilfelle av dr. S. Refsum's materiale av 'et tidligere ikke beskrevet (?) familiaert syndrom'","volume":"29","author":"Cammermeyer, J.","year":"1946","unstructured":"Cammermeyer, J. (1946). Om de anatomiske funn i to tilfelle av dr. S. Refsum's materiale av 'et tidligere ikke beskrevet (?) familiaert syndrom'. Nordisk Medicin, 29, 617.","journal-title":"Nordisk Medicin"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1097\/00005072-195607000-00007","article-title":"Neuropathological changes in hereditary neuropathies. Manifestation of the syndrome heredopathia atactica polyneuritiformis in the presence of interstitial hypertrophic polyneuropathy","volume":"15","author":"Cammermeyer, J.","year":"1956","unstructured":"Cammermeyer, J. (1956). Neuropathological changes in hereditary neuropathies. Manifestation of the syndrome heredopathia atactica polyneuritiformis in the presence of interstitial hypertrophic polyneuropathy. Journal of Neuropathology and Experimental Neurology, 15, 340-361.","journal-title":"Journal of Neuropathology and Experimental Neurology"},{"key":"ref_5","first-page":"231","article-title":"Refsum's disease, neuropathological aspects. Handbook of Clinical","volume":"21","author":"Cammermeyer, J.","year":"1975","unstructured":"Cammermeyer, J. (1975). Refsum's disease, neuropathological aspects. Handbook of Clinical Neurology, Vol. 21 System Disorders and A trophies. Part 1. Chapter 11, pp. 231-261. North-Holland Publishing Company: Amsterdam.","journal-title":"Neurology; System Disorders and A trophies. Part 1"},{"key":"ref_6","first-page":"643","article-title":"Heredopathia atactica polyneuritiformis: the neuropathologic changes in three adults and one child","volume":"30","author":"J., Cammermeyer; Haymaker, W.; Refsum, S.","year":"1954","unstructured":"Cammermeyer. J., Haymaker, W., and Refsum, S. (1954). Heredopathia atactica polyneuritiformis: the neuropathologic changes in three adults and one child. American Journal of Pathology, 30, 643-644.","journal-title":"American Journal of Pathology"},{"key":"ref_7","first-page":"691","article-title":"Dietary effects on serum-phytanic-acid levels and on clinical manifestations in heredopathia atactica polyneuritiformis","volume":"1","author":"Eldjarn, L.; Try, K.; Stokke, O.; Munthe-Kass, A.W.; S., Refsum; D., Steinberg; Avigan, J.; Mize, C.","year":"1966","unstructured":"Eldjarn, L., Try, K., Stokke, O., Munthe-Kass, A. W., Refsum. S., Steinberg. D., Avigan, J., and Mize, C. (1966). Dietary effects on serum-phytanic-acid levels and on clinical manifestations in heredopathia atactica polyneuritiformis. Lancet, 1, 691-693.","journal-title":"Lancet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1016\/S0021-9258(18)64849-5","article-title":"A simple method for the isolation and purification of total lipides from animal tissues","volume":"226","author":"Folch, J.; Lees, M.; Sloane Stanley, G.H.","year":"1957","unstructured":"Folch, J., Lees, M., and Sloane Stanley, G. H. (1957). A simple method for the isolation and purification of total lipides from animal tissues. Journal of Biological Chemistry. 226, 497-509.","journal-title":"Journal of Biological Chemistry"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1034","DOI":"10.1056\/NEJM196911062811903","article-title":"Refsum's Disease: defective oxidation of phytanic acid in tissue cultures derived from homozygotes and heterozygotes","volume":"281","author":"Herndon, H.J.; Steinberg, D.; Uhlendorf, B.W.","year":"1969","unstructured":"Herndon, H. J., Steinberg, D., and Uhlendorf, B. W. (1969). Refsum's Disease: defective oxidation of phytanic acid in tissue cultures derived from homozygotes and heterozygotes. New England Journal of Medicine, 281, 1034-1038.","journal-title":"New England Journal of Medicine"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1007\/BF01479444","article-title":"Refsum-Syndrome. Lipoidchemische Untersuchungen bei 9 Fallen","volume":"42","author":"Kahlke, W.","year":"1964","unstructured":"Kahlke, W. (1964). Refsum-Syndrome. Lipoidchemische Untersuchungen bei 9 Fallen. Klinische Wochenschrift, 42, 1011-1016.","journal-title":"Klinische Wochenschrift"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/0005-2760(67)90089-6","article-title":"Use of thin-layer chromatography for the preliminary diagnosis of Refsum's disease (Heredopathia atactica polyneuritiformis)","volume":"144","author":"Karlsson, K.A.; Norrby, A.; Samuelsson, B.","year":"1967","unstructured":"Karlsson, K. A., Norrby, A., and Samuelsson, B. (1967). Use of thin-layer chromatography for the preliminary diagnosis of Refsum's disease (Heredopathia atactica polyneuritiformis). Biochimica et Biophysica Acta, 144, 162-164.","journal-title":"Biochimica et Biophysica Acta"},{"key":"ref_12","first-page":"133","article-title":"Uber das Vorkommen der 3,7,11,15-Tetramethyl-hexadecansaure (Phytansaure) in den Cholesterinestern und anderen Lipoidfraktionen der Orange bei einem Krankheitsfall unbekannter Genese (Verdacht auf Heredopathia atactica polyneuritiformis","volume":"333","author":"Klenk, E.; Kahlke, W.","year":"1963","unstructured":"Klenk, E., and Kahlke, W. (1963). Uber das Vorkommen der 3,7,11,15-Tetramethyl-hexadecansaure (Phytansaure) in den Cholesterinestern und anderen Lipoidfraktionen der Orange bei einem Krankheitsfall unbekannter Genese (Verdacht auf Heredopathia atactica polyneuritiformis [Refsum-Syndrom]). Hoppe Seylers Zeitschrift fur Physiologische Chemie, 333, 133-139."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1016\/S0022-2275(20)42700-2","article-title":"Lipid composition of the nervous system in Refsum's disease","volume":"9","author":"MacBrinn, M.C.; O'Brien, J.S.","year":"1968","unstructured":"MacBrinn, M. C., and O'Brien, J. S. (1968). Lipid composition of the nervous system in Refsum's disease. Journal of Lipid Research, 9, 552-561.","journal-title":"Journal of Lipid Research"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1093\/brain\/90.2.419","article-title":"Refsum's syndrome. Heredopathia atactica polyneuritiformis","volume":"90","author":"Nevin, N.C.; Cumings, J.N.; McKeown, F.","year":"1967","unstructured":"Nevin, N. C., Cumings, J. N., and McKeown, F. (1967). Refsum's syndrome. Heredopathia atactica polyneuritiformis. Brain, 90, 419-428.","journal-title":"Brain"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1136\/jnnp.33.6.817","article-title":"Refsum's syndrome: report of three cases","volume":"33","author":"Quinlan, C.D.; Martin, E.A.","year":"1970","unstructured":"Quinlan, C. D., and Martin, E. A. (1970). Refsum's syndrome: report of three cases. Journal of Neurology, Neurosurgery, and Psychiatry, 33, 817-823.","journal-title":"Journal of Neurology, Neurosurgery, and Psychiatry"},{"key":"ref_16","first-page":"2682","article-title":"Heredoataxia hemeralopica polyneuritiformis-et tidligere ikke beskrevet familiaert syndrom?","volume":"28","author":"Refsum, S.","year":"1945","unstructured":"Refsum, S. (1945). Heredoataxia hemeralopica polyneuritiformis-et tidligere ikke beskrevet familiaert syndrom? Nordisk Medicin, 28, 2682-2686.","journal-title":"Nordisk Medicin"},{"key":"ref_17","article-title":"Et tidligere ikke beskrevet","author":"Refsum, S.","year":"1946","unstructured":"Refsum, S. (1946a). Et tidligere ikke beskrevet (?)"},{"key":"ref_18","first-page":"1","article-title":"Heredopathia atactica polyneuritiformis: a familial syndrome not hitherto described. A contribution to the rlinical study of the hereditary diseases of the nervous system. A cta Psychiatrica","volume":"38","author":"Refsum, S.","year":"1946","unstructured":"Refsum, S. (1946b). Heredopathia atactica polyneuritiformis: a familial syndrome not hitherto described. A contribution to the rlinical study of the hereditary diseases of the nervous system. A cta Psychiatrica Scandinavica, Supplement 38, 1-303.","journal-title":"Scandinavica, Supplement"},{"key":"ref_19","first-page":"181","article-title":"Hetedopathia atactica polyneuritiformis. Phytanic acid storage disease (Refsum's disease). Handbook of Clinical Neurology Vol 21. System Disorders and Atrophies. Part 1","volume":"10","author":"Refsum, S.","year":"1975","unstructured":"Refsum, S. (1975). Hetedopathia atactica polyneuritiformis. Phytanic acid storage disease (Refsum's disease). Handbook of Clinical Neurology Vol 21. System Disorders and Atrophies. Part 1. Chapter 10, pp. 181-229. North Holland Publishing Company: Amsterdam.","journal-title":"Chapter"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/0009-8981(69)90004-7","article-title":"Phytanic acid in tissue lipids in Refsum's disease","volume":"23","author":"Skrbic, T.R.; Cumings, J.N.","year":"1969","unstructured":"Skrbic, T. R., and Cumings, J. N. (1969). Phytanic acid in tissue lipids in Refsum's disease. Clinica Chimica Acta, 23, 17-21.","journal-title":"Clinica Chimica Acta"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1136\/jnnp.12.2.100","article-title":"Metachromatic bodies in the brain","volume":"12","author":"Smith, M.","year":"1949","unstructured":"Smith, M. (1949). Metachromatic bodies in the brain. Journal of Neurology, Neurosurgery, and Psychiatry, 12, 100-110.","journal-title":"Journal of Neurology, Neurosurgery, and Psychiatry"},{"key":"ref_22","first-page":"981","article-title":"Mucopolysaccharidoses and mucolipidoses. A nnales de","volume":"12","author":"Spranger, J.","year":"1969","unstructured":"Spranger, J. (1969). Mucopolysaccharidoses and mucolipidoses. A nnales de Radiologie, 12, 981-991.","journal-title":"Radiologie"},{"key":"ref_23","author":"Thiebaut, F.; Lemoyne, J.; Guillaumat, L.","year":"1939","unstructured":"Thiebaut, F., Lemoyne, J., and Guillaumat, L. (1939)."},{"key":"ref_24","article-title":"Maladie de Refsum","author":"Thiebaut, F.; Lemoyne, J.; Guillaumat, L.","year":"1961","unstructured":"Thiebaut, F., Lemoyne, J., and Guillaumat, L. (1961). Maladie de Refsum. Revue Neurologique, Paris.","journal-title":"Revue Neurologique, Paris"}],"container-title":["Journal of Neurology, Neurosurgery &amp; Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jnnp.41.4.323","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,20]],"date-time":"2021-09-20T09:23:41Z","timestamp":1632129821000},"score":1,"resource":{"primary":{"URL":"https:\/\/jnnp.bmj.com\/lookup\/doi\/10.1136\/jnnp.41.4.323"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1978,4,1]]},"references-count":24,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1978,4,1]]}},"URL":"https:\/\/doi.org\/10.1136\/jnnp.41.4.323","relation":{},"ISSN":["0022-3050"],"issn-type":[{"value":"0022-3050","type":"print"}],"subject":[],"published":{"date-parts":[[1978,4,1]]}}}