Refsum's Disease—A Recently Characterized Lipidosis Involving the Nervous System

Clinical Staff Conference1 February 1967Refsum's Disease—A Recently Characterized Lipidosis Involving the Nervous SystemCombined Clinical Staff Conference at the National Institutes of HealthDANIEL STEINBERG, M.D., PH.D., FREDERIC Q. VROOM, M.D., W. KING ENGEL, M.D., JAN CAMMERMEYER, M.D., CHARLES E. MIZE, M.D., PH.D., JOEL AVIGAN, PH.D.DANIEL STEINBERG, M.D., PH.D., FREDERIC Q. VROOM, M.D., W. KING ENGEL, M.D., JAN CAMMERMEYER, M.D., CHARLES E. MIZE, M.D., PH.D., JOEL AVIGAN, PH.D.Author, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-66-2-365 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptDr. Daniel Steinberg: About the time of World War II, a young Norwegian neurologist, Sigvald Refsum, became intrigued with four patients referred to the Neurology Department of the Rikshospitalet in Oslo. Two were a brother and a sister from one family, and the other two were cousins from a second family. The clinical features were unusual and shared a common pattern in all four subjects. Unable to fit the pattern into any previously described category, he reported his findings in 1945 (1), suggesting that these patients presented a new syndrome to which he eventually gave the name "heredopathia atactica polyneuritiformis"...References1. REFSUM S: Heredoataxia hemeralopica polyneuritiformis—et tidligere ikke beskrevet familiaert syndrom? En forelöbig meddelelse. Nord. Med. 28: 2682, 1945. Google Scholar2. REFSUM S: Heredopathia atactica polyneuritiformis. A familial syndrome not hitherto described. Acta Psychiat. Scand. (suppl. 38): 1, 1946. Google Scholar3. TOUSSAINTCOËRSTOPPET DCN: Heredopathia atactica polyneuritiformis (syndrome de Refsum). Constatations cliniques et biopsiques. Bull. Soc. Belg. Ophtal. 122: 383, 1959. Google Scholar4. 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CASONGRAHAM JDW: Isolation of isoprenoid acids from a California petroleum. Tetrahedron 21: 471, 1965. CrossrefGoogle Scholar60. MIZESTEINBERGAVIGANFALES CEDJHM: A pathway for oxidative degradation of phytanic acid in mammals. Biochem. Biophys. Res. Commun. 25: 359, 1966. CrossrefMedlineGoogle Scholar61. KOLODNYHASSLANEDRUCKER EHWKBWD: Refsum's syndrome: report of a case including electron microscopic studies of the liver. Arch. Neurol. (Chicago) 12: 583, 1965. CrossrefMedlineGoogle Scholar62. KORNZWEIGBASSEN ALFA: Retinitis pigmentosa, acanthocytosis, and heredodegenerative neuromuscular disease. Arch. Ophthal. (Chicago) 58: 183, 1957. CrossrefMedlineGoogle Scholar63. SIMONEISENGARTSUNDHEIMMILHORAT EJALAT: The metabolism of vitamin E. II. Purification and characterization of urinary metabolites of α-tocopherol. J. Biol. Chem. 221: 807, 1956. CrossrefMedlineGoogle Scholar64. MEADLEVIS JFGM: A 1 carbon degradation of the long chain fatty acids of brain sphingolipids. J. Biol. Chem. 238: 1634, 1963. CrossrefMedlineGoogle Scholar65. HAJRARADIN AKNS: In vivo conversion of labeled fatty acids to the sphingolipid fatty acids in rat brain. J. Lipid Res. 4: 448, 1963. CrossrefMedlineGoogle Scholar66. KISHIMOTORADIN YNS: Occurrence of 2-hydroxy fatty acids in animal tissues. Ibid., p. 139. Google Scholar67. REFSUM S: Heredopathia atactica polyneuritiformis—an inborn error of metabolism. Nord. Med. 75: 359, 1966. MedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Bethesda, MarylandThis is an edited transcription of a combined clinical staff conference at the Clinical Center, Bethesda, Md., by the National Heart Institute and the National Institute of Neurological Diseases and Blindness, National Institutes of Health, Public Health Service, U. S. Department of Health, Education, and Welfare.Requests for reprints should be addressed to Daniel Steinberg, M.D., Chief, Laboratory of Metabolism, National Heart Institute, Bldg. 10, Room 5-N-307, National Institutes of Health, Bethesda, Md. 20014. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byPhytol and its metabolites phytanic and pristanic acids for risk of cancer: current evidence and future directionsLow-Density Lipoprotein (LDL) ApheresisCochlear implantation in Refsum's diseaseDisorders of the Peripheral Nervous SystemHuman peroxisomal disordersPhytanic acid storage disease (Refsum's disease): Clinical characteristics, pathophysiology and the role of therapeutic apheresis in its managementPeroxisomal Disorders: Genotype, Phenotype, Major Neuropathologic Lesions, and PathogenesisRefsum disease: a defect in the alpha-oxidation of phytanic acid in peroxisomesDiet and Refsum's disease. 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NEIL SCHIMKE, M.D.Phytenic acid: Identification of five isomers in chemical and biological products of phytolHypoxanthine-Guanine Phosphoribosyltransferase Deficiency in GoutWILLIAM N. KELLEY, M.D., MARTIN L. GREENE, M.D., FREDERICK M. ROSENBLOOM, M.D., J. FRANK HENDERSON, PH.D., J. E. SEEGMILLER, M.D.LipidsDifferent ratios of the ldd and ddd diastereoisomers of phytanic acid in patients with Refsum's diseaseLipid composition of the nervous system in Refsum's diseaseAbsorption of chlorophyll phytol in normal man and in patients with Refsum's diseaseStudies on alpha oxidation of stearic acid by Tetrahymenapyriformis and CrithidiafasiculataDie Struktur des zentralen und peripheren Nervensystems als Grundlage seiner Funktion und seiner ErkrankungenAbsorption of phytol from dietary chlorophyll in the ratGenetics in Neuromuscular DiseasesMuscle Biopsies in Neuromuscular DiseasesSkeletal Muscle Basic and Clinical Aspects and Illustrative New DiseasesCARL M. PEARSON, M.D., F.A.C.P., RALPH F. COLEMAN, M.S, M.D., WILLIAM M. FOWLER JR., M.D., WILFRIED F. H. M. MOMMAERTS, PH.D., THEODORE L. MUNSAT, M.D., J. B. PETER, M.D., PH.D.REFSUM'S DISEASERefsum's Disease: Nature of the Enzyme DefectHereditary ataxic polyneuritis: Biochemical anddietary studies 1 February 1967Volume 66, Issue 2Page: 365-395KeywordsAttentionHeart diseasesMedical servicesNervous systemNeurologyOral administrationPathogenesisPrevention, policy, and public healthProteinsRetinitis Issue Published: 1 February 1967 PDF downloadLoading ...