Heredopathia atactica polyneuritiformis

Refsum S. 1946. Heredopathia atactica polyneuritiformis A familial syndrome not hitherto described. A contribution to the clinical study of the hereditary diseases of the nervous system. Acta Psychiatr Scand (Suppl 38) 1-303. 

Klenk, E. Kahlke, W. (1963) Hoppe Seylers. Z. Physiol. Chem. 333, 133-139. Ueber das Voikommen der 3,7,11,15-Tetramethylhexadecansaure (phytansaure) in den Cholesterinestem und anderen Lipoid-fraktionen der Organe bei einem Krankheitsfall unbekanter Genese (Verdacht auf Heredopathia atactica polyneuritiformis, Refsum s syndrome). 

Refsum disease, also called heredopathia atactica polyneuritiformis, is a rare hereditary neurological disease that is transmitted as an autosomal recessive. It results from the absence of an enzyme (phytanic acid oxidase) which catalyzes the a-oxidation of phytanic acid (3,7,11,15-tetramethylhexadecanoic acid). Because of the methyl side chain in position 3 the j8-carbon oxidation of phytanic acid is blocked and the breakdown of phytanic acid can only start through a-oxidation. The product of the a-oxidation is pristanic... 

Neuropathological changes in hereditary neuropathies manifestation of the syndrome heredopathia atactica polyneuritiformis in the presence of interstitial hypertrophic polyneuropathy. J. Neuropath, exp. Neurol. 15, 340 (1956). 

W. Haymaker, and S. Refsum Heredopathia atactica polyneuritiformis The neuro-pathologic changes in three adults and one child. Amer. J. Path. 30, 643 (1954). 

Eldjarn, L., K. Try, O. Stokke, A. M. Mtjnthe-Kaas, S. Refsum, D. Steinberg, J. Avigan, and C. Mize Dietary effects on serum-phytanic acid levels and on clinical manifestations in heredopathia atactica polyneuritiformis. Lancet 1906 b/I, 691. 

Gordon,N., and R.E.B.Hudson Refsum s Syndrome.Heredopathia atactica polyneuritiformis. A report of three cases, including a study of the cardiac pathology. Brain 82,41 (1959). 

Greenfield, J. G. Diseases of the lower motor and sensory neurones (peripheral neuritis and neuropathy) in hypertrophic interstitial neuropathy of Dejerine and Sottas (heredopathia atactica polyneuritiformis Refsum). In Neuropathology. Ed. Arnold, p. 607. London 1958. 

Harders, H., u. H. Dieckmann Heredopathia atactica polyneuritiformis. Klinik und Dia-gnostik des Refsum-Syndroms. Dtsch. med. Wschr. 89, 248 (1964). 

Heredopathia atactica polyneuritiformis (Refsum-Syndrom) Umwandlung von H-Phytol in die 3. 7.11. 15-Tetramethylhexadecansaure (Phytansaure) der Plasmalipoidfraktionen. Klin. Wschr. 43, 1345 (1965). 

Nordhagen, E., and J. Grondahl Heredopathia atactica polyneuritiformis (Refsum s disease). Acta ophthal. (Kbh.) 42, 629 (1964). 

Ole SEN, Th. B. A case of heredopathia atactica polyneuritiformis (Morbus Refsum). Acta psychiat. scand. 32, 83 (1957). 

Heredopathia atactica polyneuritiformis. A familial syndrome not hitherto described. Acta psychiat. scand. Suppl. 38 (1946b). 

Heredopathia atactica polyneuritiformis. Acta genet. (Basel) 7, 344 (1957). 

Heredopathia atactica polyneuritiformis, en metabolisk betinget nervesykdom. Nord. Med. 73, 570 (1965). 

H. Moser, and E. Rossi Refsum s disease (heredopathia atactica polyneuritiformis). An inborn error of lipid metabolism with storage of 3, 7, 11, 15-tetramethylhexadecanoic acid. A review of the clinical findings. Humangenetik 1, 322 (1965 a). 

Salomon SEN, L., and M. Skatvedt Four cases of heredopathia atactica polyneuritiformis (Refsum) in children. Acta paediat. (Uppsala) Suppl. 77,44 (1949). 

Stoffel, W., and W. Kahlke The transformation of phytol into 3, 7,11, 15-tetramethyl-hexadecanoic (phytanic) acid in heredopathia atactica polyneuritiformis (Refsum s syndrome). Biochem. biophys. Res. Commun. 19, 1 (1965). 

Try, K., 0. Stokke, and L. Eldjarn Two new cases of heredopathia atactica polyneuritiformis (Refsums syndrome). Demonstrated phytanic acid accumulation. Scand. J. din. Lab. Invest. 17, Suppl. 80,195 (1965). 

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