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Heredopathia Atactica Polyneuritiformis (Refsum’s Disease)

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Lipids and Lipidoses

Abstract

The first description of heredopathia atactica polyneuritiformis (HAP) was given 20 years ago by the Norwegian neurologist Sigvald Refsum. Main clinical features of this hereditary disorder are symptoms and signs of chronic polyneuropathy with progressive pareses of the distal parts of the extremities and distal muscular atrophy, and cerebellar involvement with ataxia and nystagmus. Deep tendon reflexes are absent. The cerebrospinal fluid protein is always considerably increased while the cell count is normal (albuminocytologic dissociation). Other clinical signs include atypical or (less frequently) typical pigmentary retinitis with night blindness and concentric narrowing of the visual fields, skeletal malformations which are usually symmetrical in approximately 75% of cases, and cardiac involvement which may give rise to various electrocardiographic abnormalities. Further facultative symptoms consist of impairment of hearing and sense of smell, skin changes resembling ichthyosis and other non-characteristic changes.

Supported in parts by funds from Deutsche Forschungsgemeinschaft.

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References

  • Alexander, W. S.: Phytanic acid in Refsum’s syndrome. J. Neurol. Neurosurg. Psychiat. (1966) 29, 412. Personal communication.

    PubMed  CAS  Google Scholar 

  • Alfano, J. E., and J. P. Berger: Retinitis pigmentosa, ophthalmoplegia, and spastic quadriplegia. Amer. J. Ophthal. 43, 231 (1957).

    PubMed  CAS  Google Scholar 

  • Ashenhurst, E., J. Millar, and T. Milliken: Refsum’s syndrome affecting a brother and two sisters. Brit. Med. J. 1958/11, 415.

    Google Scholar 

  • Barnard, R. I., and R. O. Scholz: Ophthalmoplegia and retinal degeneration. Amer. J. Ophthal. 27, 621 (1944).

    Google Scholar 

  • Baum, J. L., M. Tannenbaum, and E. H. Kolodny: Refsum’s syndrome with corneal involvement. Amer. J. Ophthal. 60, 699 (1965).

    PubMed  CAS  Google Scholar 

  • Bergmann, E.: Studies in Heredo ataxia. Uppsala Läk.-Fören. Förh. 26, 1 (1921).

    Google Scholar 

  • Billeter, M., W. Bolliger u. C. Martius: Untersuchungen über die Umwandlung von verfütterten K-Vitaminen durch Austausch der Seitenkette und die Rolle der Darmbakterien hierbei. Biochem. Z. 340, 290 (1964).

    PubMed  CAS  Google Scholar 

  • Billings, J. J., J. O’Callaghan, and K. O’Day: Refsum’s syndrome: Heredopathia atactica polyneuritiformis. Trans. Ophthal. Soc. Aust. 17, 131 (1957).

    Google Scholar 

  • Bjurstam, N., B. Hallgren, R. Ryhage u. S. Ställberg-Stenhagen: Cit. by Stenhagen: Massenspectrometrie als Hilfsmittel bei der Strukturbestimmung organischer Verbindungen, besonders bei Lipiden und Peptiden. Z. analyt. Chem. 181, 462 (1961).

    Google Scholar 

  • Blanc, M., A. Seilhcan, J. Julien et Bourgeois: Maladie de Refsum: Limites du syndrome de Guillain-Barré. Ann. méd.-psychol. 1, 732 (1963).

    Google Scholar 

  • Cammermeyer, J.: Om de anatomiske Gunn i to tilfelle av dr. Refsum’s materiale av “et tidligere ikke beskrevet ( ?) familiaert syndrom”. Nord. Med. 29, 617 (1946).

    Google Scholar 

  • Cammermeyer, J.: 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).

    CAS  Google Scholar 

  • Cammermeyer, J. , W. Haymaker, and S. Refsum: Heredopathia atactica polyneuritiformis: The neuropathology changes in three adults and one child. Amer. J. Path. 30, 643 (1954).

    Google Scholar 

  • Cason, J., G. Sumrell, C. P. Allen, G. A. Gillies and S. Elberg: Certain characteristics of the fatty acids from the lipides of the tubercle bacillus. J. biol. Chem. 205, 435 (1953).

    PubMed  CAS  Google Scholar 

  • Chamlin, M., and E. Billet: Ophthalmoplegia and pigmentary degeneration of the retina. Arch. Ophthal. 43, 217 (1950).

    PubMed  CAS  Google Scholar 

  • Clark, D. B.: Heredopathia atactica polyneuritiformis. J. Neuropath, exp. Neurol. 9,385 (1951).

    Google Scholar 

  • Clauss, O.: Über hereditäre cerebellare Ataxie in Verbindung mit Pigmentdegeneration und Degeneration des N. cochlearis. Z. Ges. Neurol. Psychiat. 23, 294 (1924).

    Google Scholar 

  • Dereux, J.: Maladie de Refsum. VII. Int. Congres Neurol., Roma. Excerpta med. (Amst.). Int. Congr. Series 38, 103 (1961).

    Google Scholar 

  • Dereux, J.: La maladie de Refsum. Rev. Neurol. 109, 599 (1963).

    Google Scholar 

  • Dereux, J.: Personal communication (1965).

    Google Scholar 

  • Dereux, J. and J. E. Grüner: Maladie de Refsum. Étude d’une biopsie nerveuse au microscope électronique. Rev. Neurol. 109, 564 (1963a).

    Google Scholar 

  • Dereux, J. and J. E. Grüner: Maladie de Refsum. Étude biopsique d’un nerf au microscope électronique. Soc. Franç. de Neurologie, Séance du novembre 1963 b.

    Google Scholar 

  • Duncan, W. R. H., and G. A. Garton: Blood lipids. 3. Plasma lipids of the cow during pregnancy and lactation. Biochem. J. 89, 414 (1963).

    PubMed  CAS  Google Scholar 

  • Dureux, J. B.: Les génopathies et embryopathies neuro-ophtalmiques. Encéphale 3,253 (1957).

    Google Scholar 

  • Edström, R., O. Gröntoft, and H. Sandring: Refsum’s disease. Three siblings, one autopsy. Acta psychiat. scand. 34, 40 (1959).

    Google Scholar 

  • Eldjarn, L.: Heredopathia atactica polyneuritiformis (Refsum’s disease) — A defect in the omega-oxidation mechanism of fatty acids. Scand. J. Clin. Lab. Invest. 17, 178 (1965a).

    PubMed  CAS  Google Scholar 

  • Eldjarn, L.: Biokjemiske synspunkter pa phytansyrens opprinelse. Nord. Med. 73, 571 (1965b).

    Google Scholar 

  • Eldjarn, L. K. Try, and O. Stokke: Abnormal serum protein pattern in Refsum’s disease. Scand. J. Clin. Lab. Invest. 17, Suppl. 86, 137 (1965a).

    Google Scholar 

  • Eldjarn, L. K. Try, and O. Stokke: Studies on the defect in the degradation of branched-chain fatty acid structures in Refsum’s disease. Scand. J. Clin. Lab. Invest. 17, Suppl. 86, 138 (1965 b).

    Google Scholar 

  • Eldjarn, L. K. Try, and O. Stokke: The existence of an alternative pathway for the degradation of branched-chain fattyacids, and its failure in heredopathia atactica polyneuritiformis (Refsum’s disease). Biochim. Biophys. Acta (Amst.) 116, 395 (1966a).

    CAS  Google Scholar 

  • Eldjarn, L., K. Try, O. Stokke, A. M. Munthe-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 1966 b/I, 691.

    Google Scholar 

  • Erdbrink, W. L.: Ocular myopathy associated with retinitis pigmentosa. Arch. Ophthal. 57, 335 (1957).

    Google Scholar 

  • Fisher, M.: Unusual variant of acute idiopathic polyneuritis syndrome of ophthalmoplegia, ataxia and areflexia. New. Engl. J. Med. 255, 57 (1956).

    PubMed  CAS  Google Scholar 

  • Fleming, R.: Refsum’s syndrome. An unusual hereditary neuropathy. Neurology (Minneap.) 7, 476 (1957).

    CAS  Google Scholar 

  • Franceschetti, A., J. Francois et J. Babel: Les hérédo-dégénérescenses chorio-rétiniennes (dégénérescenses tapéto-rétiniennes), p. 851 et 1085. Paris: Masson 1963.

    Google Scholar 

  • Freycon, F.: Revue critique. Le syndrome de Refsum. Pédiatrie 16, 411 (1961).

    PubMed  CAS  Google Scholar 

  • Gellerstedt, in: Kjellson (1953).

    Google Scholar 

  • Globus, J. H.: Ein Beitrag zur Histopathologic der amaurotischen Idiotie (mit besonderer Berücksichtigung der Beziehungen zu den hereditären Kleinhirnerkrankungen und zur Merzbacher-Pelizaeusschen Krankheit). Z. Ges. Neurol. Psychiat. 85, 424 (1923).

    Google Scholar 

  • Globus, J. H.: Amaurotic family idiocv. J. Mt Sinai Hosp. 9, 451 (1942); cited after Reese and Bareta, 1950.

    Google Scholar 

  • Goodwin, R. F., and C. M. Poser: Ophthalmoplegia, ataxia and areflexia. J. Amer. Med. Ass. 186, 258 (1963).

    CAS  Google Scholar 

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

    PubMed  CAS  Google Scholar 

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

    Google Scholar 

  • Hallervorden, J.: Die hereditäre Ataxie. In: Bumke, O., and O. Foerster (Herausgeb.): Handbuch der Neurologie, Bd. 16, S. 657. Berlin: Springer 1936.

    Google Scholar 

  • Hansen, R. P.: 3, 7, 11, 15-tetramethylhexadecanoic acid: its occurrence in sheep fat. N. Z. J. Sci. 8, 158 (1965a).

    CAS  Google Scholar 

  • Hansen, R. P.: 3, 7, 11, 15-tetramethylhexadecanoic acid: its occurrence in the tissues of humans afflicted with Refsum’s syndrome. Biochem. Biophys. Acta (Amst.) 106, 304 (1965b).

    CAS  Google Scholar 

  • Hansen, R. P.: Occurrence of 3, 7, 11, 15-tetramethylhexadecanoic acid in ox perinephric fat. Chem. Industry 1965 c, 303.

    Google Scholar 

  • Hansen, R. P. and F. B. Shorland: The branched chain fatty acids of butter fat. II. The isolation of a multibranched C20 saturated fatty acid fraction. Biochem. J. 50, 358 (1951).

    Google Scholar 

  • Hansen, R. P. and F. B. Shorland: Biochem. J. 55, 662 (1953); cited after Hansen (1965 b).

    Google Scholar 

  • Hansen, R. P. and F. B. Shorland and J. D. Morrison: Identification of a C20 multibranched fatty acid from butterfat as 3, 7, 11, 15-tetramethylhexadecanoic acid. J. Dairy Res. 32, 21 (1965).

    CAS  Google Scholar 

  • Härders, H., u. H. Dieckmann: Heredopathia atactica polyneuritiformis. Klinik und Diagnostik des Refsum-Syndroms. Dtsch. Med. Wschr. 89, 248 (1964).

    PubMed  Google Scholar 

  • Heycock, J. B., and J. Wilson: Diabetes mellitus in a child showing features of Refsum’s syndrome. Arch. Dis. Childh. 33, 320 (1958).

    PubMed  CAS  Google Scholar 

  • Jager, B. V., H. L. Fred, R. B. Butler, and W. H. Carnes: Occurrence of retinal pigmentation, ophthalmoplegia, ataxia, deafness and heart block. Report of a case with findings at autopsy. Amer. J. Med. 29, 888 (1960).

    PubMed  CAS  Google Scholar 

  • Jéquier, M., et E. B. Streiff: Paraplégie, dystrophie scelettique et dégénérescense tapétorétinienne familiale. Arch. Klaus-Stift. Vererb.-Forsch. 22, 129 (1947).

    Google Scholar 

  • Kahlke, W.: Über das Vorkommen von 3, 7, 11, 15-Tetramethylhexadecansäure im Blutserum bei Refsum-Syndrom. Klin. Wschr. 41, 783 (1963).

    CAS  Google Scholar 

  • Kahlke, W.: Refsum-Syndrom. — Lipoidchemische Untersuchungen bei 9 Fällen. Klin. Wschr. 42, 1011 (1964a).

    PubMed  CAS  Google Scholar 

  • Kahlke, W.: Unpublished results (1964b).

    Google Scholar 

  • Kahlke, W.: Lipoide (Lipide). Fortschr. Med. 83, 517, 552 (1965).

    Google Scholar 

  • Kahlke, W.: Lipoide (Lipide). Fortschr. Med. 83, 517, 634 (1965).

    Google Scholar 

  • Kahlke, W. and R. Richterich: Refsums disease (heredopathia atactica polyneuritiformis) : An inborn error of lipid metabolism with storage of 3, 7, 11, 15-tetramethylhexadecanoic acid. II. Isolation and identification of the storage product. Amer. J. Med. 39, 237 (1965).

    PubMed  CAS  Google Scholar 

  • Kahlke, W. and H. Wagener: Destribution of 3, 7, 11, 15-tetramethylhexadecanoic acid between plasma lipoproteins in Refsum’s syndrome. In: Protides of the biological fluids, XIII. Colloquium Brugge 1965, p. 351. Ed.: H. Peeters. Amsterdam: Elsevier 1966a.

    Google Scholar 

  • Kahlke, W. and H. Wagener: Conversion of 3H-phytol to phytanic acid and its incorporation into plasma fractions in heredopathia atactica polyneuritiformis. Metabolism 15, 687 (1966 b).

    PubMed  CAS  Google Scholar 

  • Kahlke, W. and H. Wagener u. H. Dieckmann: Untersuchungen über den Phytolstoffwechsel bei der Lipidose Heredopathia atactica polyneuritiformis (Refsum-Syndrom) : Umwandlung von 3H-Phytol in die 3. 7. 11. 15-Tetramethylhexadecansäure (Phytansäure) der Plasmalipoidfraktionen. Klin. Wschr. 43, 1345 (1965).

    PubMed  CAS  Google Scholar 

  • Kearns, T. P., and G. P. Sayre: Retinitis pigmentosa, external ophthalmoplegia and complete heart block. Arch. Ophthal. 60, 280 (1958).

    CAS  Google Scholar 

  • Kjellson, L.: Refsum sjuledom. Refsum’s disease. Nord. Med. 49, 460 (1953).

    PubMed  CAS  Google Scholar 

  • Klenk, E., u. W. Kahlke: Über das Vorkommen der 3,7,11,15-Tetramethylhexadecansäure (Phytansäure) in den Cholesterinestern und anderen Lipoidfraktionen der Organe bei einem Krankheitsfall unbekannter Genese. Verdacht auf Heredopathia atactica polyneuritiformis (Refsum-Syndrom). Hoppe Seylers Z. physiol. Chem. 333, 133 (1963).

    PubMed  CAS  Google Scholar 

  • Lough, A. K.: Isolation of 3, 7, 11, 15-tetramethylhexadecanoic acid from ox plasma. Biochem. J. 86, 14 (1963).

    Google Scholar 

  • Lough, A. K.: Blood lipids. 4. The isolation of 3, 7, 11, 15-tetramethylhexadecanoic acid (phytanic acid) from ox-plasma lipids. Biochem. J. 91, 584 (1964).

    PubMed  CAS  Google Scholar 

  • Nordhagen, E., and J. Gröndahl: Heredopathia atactica polyneuritiformis (Refsum’s disease). Acta Ophthal. (Kbh.) 42, 629 (1964).

    CAS  Google Scholar 

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

    CAS  Google Scholar 

  • Pecker, J., Y. M. Feuvrier et Y. Lehuerou: Maladie de Refsum. Diagnostic avec certaines polyradiculonéurites à rechutes. Rev. Neurol. 109, 1 (1963).

    Google Scholar 

  • Petit, J. F.: Le syndrome de Refsum. Les manifestations ophthalmologiques à propos d’une observation. These, Reimes, No. 354 (1963).

    Google Scholar 

  • Prior, I.: Personal communication (1966).

    Google Scholar 

  • Ravin, B., and H. Schwartz: Case report: Refsum’s disease. Anesthesiology 23, 269 (1962).

    PubMed  CAS  Google Scholar 

  • Reese, H., and J. Bareta: Heredopathia atactica polyneuritiformis. J. Neuropath, exp. Neurol. 9, 385 (1950).

    CAS  Google Scholar 

  • Refsum, S.: Staff meeting Rikshospitalet, Oslo, June 1944.

    Google Scholar 

  • Refsum, S.: Heredoataxia hemeralopica polyneuritiformis — et tidligere ikke beskrevet familiaert syndrom ? En forelobig meddelelse. Nord. Med. 28, 2682 (1945).

    Google Scholar 

  • Refsum, S.: Et tidligere ikke beskrevet ( ?) familiaert syndrom: “Heredoataxia hemeralopica polyneuritiformis”. Nord. Med. 29, 617 (1946a).

    Google Scholar 

  • Refsum, S.: Heredopathia atactica polyneuritiformis. A familial syndrome not hitherto described. Acta psychiat. scand. Suppl. 38 (1946b).

    Google Scholar 

  • Refsum, S.: Heredopathia atactica polyneuritiformis. J. nerv. ment. Dis. 116, 1046 (1952).

    PubMed  CAS  Google Scholar 

  • Refsum, S.: Heredopathia atactica polyneuritiformis. Acta Genet. (Basel) 7, 344 (1957).

    CAS  Google Scholar 

  • Refsum, S.: Heredopathia atactica polyneuritiformis. Wld Neurol. 1, 334 (1960).

    CAS  Google Scholar 

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

    Google Scholar 

  • Refsum, S.: Personal communication (1966).

    Google Scholar 

  • Refsum, S., L. Salomonsen, and M. Skatvedt: Heredopathia atactica polyneuritiformis in children; a preliminary communication. J. Pediat. 35, 335 (1949).

    PubMed  CAS  Google Scholar 

  • Richterich, R., W. Kahlke, P. van Mechelen u. E. Rossi: Refsum’s Syndrom (Heredopathia atactica polyneuritiformis): Ein angeborener Defekt im Lipoidstoffwechsel mit Speicherung von 3, 7,11, 15-Tetramethylhexadecansäure. Klin. Wschr. 41, 800 (1963).

    PubMed  CAS  Google Scholar 

  • Richterich, R., W. Kahlke, P. van Mechelen u. E. Rossi, H. Moser, and E. Rossi: Refsum’s disease (heredopathia atactica polyneuritiformis). Aninborn error of lipid metabolism with storage of 3, 7, 11, 15-tetramethylhexadecanoic acid. A review of the clinical findings. Humangenetik 1, 322 (1965 a).

    PubMed  CAS  Google Scholar 

  • Roos, B., P. van Mechelen and E. Rossi: Refsum’s disease (heredopathia atactica polyneuritiformis): An inborn error of lipid metabolism with storage of 3, 7, 11, 15-tetramethylhexadecanoic acid. I. Report of a case. Amer. J. Med. 39, 230 (1965 b).

    Google Scholar 

  • Roos, B., P. van Mechelen and E. Rossi and R. Richterich: Refsum’s disease (heredopathia atactica polyneuritiformis): Aninborn error of lipid metabolism with storage of 3, 7, 11, 15-tetramethylhexadecanoic acid. V. Biochemical, histological and electron microscopical studies on biopsy material from the liver and the kidney. (In preparation.) Cited by Richterich et al. (1965a).

    Google Scholar 

  • Roth, M.: On a possible relationship between hereditary ataxia and peroneal muscular atrophy; with a critical review of the problems of “intermediate forms” in the degenerative disorders of the central nervous system. Brain 71, 416 (1948).

    PubMed  CAS  Google Scholar 

  • Sabottratjd, O.: Personal communication (1965/1966).

    Google Scholar 

  • Saifer, A., and S. Gerstenfield: Photometric determination of sialic acid in serum and in cerebrospinal fluid with the thiobarbituric acid method. Clin. chim. Acta 7, 467 (1962).

    PubMed  CAS  Google Scholar 

  • Sakagamy, T., and D. B. Zilversmith: Separation of dog serum lipoproteins by ultracentrifugation, dextran sulfate precipitation, and paper electrophoresis. J. Lipid Res. 3, 111 (1962).

    Google Scholar 

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

    Google Scholar 

  • Sauer: Personal communication (unpublished data) 1964.

    Google Scholar 

  • Saunders, M., and M. Rake: Familial Guillain-Barré Syndrome. Lancet 1965/11,1106.

    Google Scholar 

  • Sjögren, T.: Klinische und erbbiologische Untersuchungen über die Heredoataxien. Actapsychiat. scand. Suppl. 27,1 (1943).

    Google Scholar 

  • Smith, J. L., and F. B. Walsh: Syndrome of external ophthalmoplegia, ataxia, and areflexia (Fisher). Arch. Ophthal. 58,109 (1957).

    CAS  Google Scholar 

  • Sonneveld, Z. W., P. Haverkamp-Begeman, G. J. van Beers, R. Ketjning, and J. C. M. Schogt: 3.7.11.15-tetramethylhexadecanoic acid: a constituent of butter-fat. J. Lipid. Res. 3, 351 (1962).

    CAS  Google Scholar 

  • Steinberg, D.: Remarks on the biochemical basis of Refsum’s disease. Nord. Med. 73, 571 (1965).

    Google Scholar 

  • Steinberg, D., J. Avigan, C. Mize, and J. Baxter: Phytanic acid formation and accumulation in phytolfed rats. Biochem. Biophys. Res. Commun. 19, 412 (1965 a).

    PubMed  CAS  Google Scholar 

  • Steinberg, D., J. Avigan, C. Mize, and J. Baxter, L. Eldjarn, K. Try, and S. Refsum: Conversion of U-C14-phytol to phytanic acid and its Oxydation in heredopathia atactica polyneuritiformis. Biochem. Biophys. Res. Commun. 19, 783 (1965b).

    PubMed  CAS  Google Scholar 

  • 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).

    Google Scholar 

  • Thiébaut, J., J. Lemoyne et L. Guillatjmat: Deux syndromes oto-neuro-oculistiques d’origene congenitale. Leurs rapports avec les placomatoses de van der Stolve et autres dysplasies neuro-ectodermiques. Rev. Neurol. 72, 71 (1939).

    Google Scholar 

  • Thiébaut, J., J. Lemoyne et L. Guillatjmat: Maladie de Refsum. Rev. Neurol. 104, 152 (1961).

    Google Scholar 

  • Toussaint, D., C. Coers et N. Toppet: Heredopathia atactica polyneuritiformis (syndrome de Refsum). Constatation cliniques et biopsiques. Bull. Soc. beige Ophthal. 122,383 (1959).

    Google Scholar 

  • Try, K., O. Stokke, and L. Eldjarn: Two new cases of heredopathia atactica polyneuritiformis (Refsums syndrome). Demonstrated phytanic acid accumulation. Scand. J. Clin. Lab. Invest. 17, Suppl. 86,195 (1965).

    Google Scholar 

  • Veltema, A. N., et A. Verjaal: Sur un cas d’hérédopathie ataxique polyneuritique. Maladie de Refsum. Rev. Neurol. 104,15 (1961).

    CAS  Google Scholar 

  • Wald, G.: The visual function of the vitamins A. Vitam. and Horm. 18, 417 (1960).

    CAS  Google Scholar 

  • Walsh, F. B.: Clinical Neuro-Ophthalmology. Baltimore: Williams & Wilkins 1947.

    Google Scholar 

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  1. W. Kahlke
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Kahlke, W. (1967). Heredopathia Atactica Polyneuritiformis (Refsum’s Disease). In: Schettler, G. (eds) Lipids and Lipidoses. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-87367-6_13

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