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10 Literature cited in this section

Baumgartner MR, Jansen GA, Verhoeven NM, Mooyer PA, Jakobs C, Roels F, Espeel M, Fourmaintraux A, Bellet H, Wanders RJ, Saudubray JM (2000) Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution. Ann Neurol 47:109-13

Braverman N, Chen L, Lin P, Obie C, Steel G, Douglas P, Chakraborty PK, Clarke JT, Boneh A, Moser A, Moser H, Valle D (2002) Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. Hum Mutat 20:284-97

Claridge KG, Gibberd FB, Sidey MC (1992) Refsum disease: the presentation and ophthalmic aspects of Refsum disease in a series of 23 patients. Eye 6 (Pt 4):371-5

Ferdinandusse S, Denis S, Clayton PT, Graham A, Rees JE, Allen JT, McLean BN, Brown AY, Vreken P, Waterham HR, Wanders RJ (2000) Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. Nat Genet 24:188-91

Fertl E, Földy D, Vass K, Auff E (2001) Refsum's disease in an Arabian family. J Neurol Neurosurg Psychiatry 70:564-5

Gibberd FB and Wierzbicki AS (2000) Heredopathia atactica polyneuritiformis: Refsum's disease. In: Klockgether R (ed) Handbook of Ataxia Disorders. Marcel Dekker, New York, pp 235-56

Gibberd FB, Billimoria JD, Page NG, Retsas S (1979) Heredopathia atactica polyneuritiformis (refsum's disease) treated by diet and plasma-exchange. Lancet 1:575-8

Gutsche HU, Siegmund JB, Hoppmann I (1996) Lipapheresis: an immunoglobulin-sparing treatment for Refsum's disease. Acta Neurol Scand 94:190-3

IJlst L, de Kromme I, Oostheim W, Wanders RJ (2000) Molecular cloning and expression of human L-pipecolate oxidase. Biochem Biophys Res Commun 270:1101-5

Jansen GA, Ofman R, Ferdinandusse S, Ijlst L, Muijsers AO, Skjeldal OH, Stokke O, Jakobs C, Besley GT, Wraith JE, Wanders RJ (1997) Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nat Genet 17:190-3

Jansen GA, Hogenhout EM, Ferdinandusse S, Waterham HR, Ofman R, Jakobs C, Skjeldal OH, Wanders RJ (2000) Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease. Hum Mol Genet 9:1195-200

Jansen GA, van den Brink DM, Ofman R, Draghici O, Dacremont G, Wanders RJ (2001) Identification of pristanal dehydrogenase activity in peroxisomes: conclusive evidence that the complete phytanic acid alpha-oxidation pathway is localized in peroxisomes. Biochem Biophys Res Commun 283:674-9

Jansen GA, Wanders RJ, Watkins PA, Mihalik SJ (1997) Phytanoyl-coenzyme A hydroxylase deficiency -- the enzyme defect in Refsum's disease. N Engl J Med 337:133-4

Jansen GA, Waterham HR, Wanders RJ (2004) Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). Hum Mutat 23:209-18

Mihalik SJ, Morrell JC, Kim D, Sacksteder KA, Watkins PA, Gould SJ (1997) Identification of PAHX, a Refsum disease gene. Nat Genet 17:185-9

Moser HW, Braine H, Pyeritz RE, Ullman D, Murray C, Asbury AK (1980) Therapeutic trial of plasmapheresis in Refsum disease and in Fabry disease. Birth Defects Orig Artic Ser 16:491-7

Motley AM, Brites P, Gerez L, Hogenhout E, Haasjes J, Benne R, Tabak HF, Wanders RJ, Waterham HR (2002) Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1. Am J Hum Genet 70:612-24

Mukherji M, Chien W, Kershaw NJ, Clifton IJ, Schofield CJ, Wierzbicki AS, Lloyd MD (2001) Structure-function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum's disease. Hum Mol Genet 10:1971-82

Nadal N, Rolland MO, Tranchant C, Reutenauer L, Gyapay G, Warter JM, Mandel JL, Koenig M (1995) Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family. Hum Mol Genet 4:1963-6

Oysu C, Aslan I, Basaran B, Baserer N (2001) The site of the hearing loss in Refsum's disease. Int J Pediatr Otorhinolaryngol 61:129-34

Plant GR, Hansell DM, Gibberd FB, Sidey MC (1990) Skeletal abnormalities in Refsum's disease (heredopathia atactica polyneuritiformis). Br J Radiol 63:537-41

Refsum S (1946) Heredopathia atactica polyneuritiformis. Acta Psychiatr Scand (Suppl) 38:1-303

Skjeldal OH and Stokke O (1987) The subcellular localization of phytanic acid oxidase in rat liver. Biochim Biophys Acta 921:38-42

Skjeldal OH, Stokke O, Refsum S, Norseth J, Petit H (1987) Clinical and biochemical heterogeneity in conditions with phytanic acid accumulation. J Neurol Sci 77:87-96

Smith BT, Sengupta TK, Singh I (2000) Intraperoxisomal localization of very-long-chain fatty acyl-CoA synthetase: implication in X-adrenoleukodystrophy. Exp Cell Res 254:309-20

Tranchant C, Aubourg P, Mohr M, Rocchiccioli F, Zaenker C, Warter JM (1993) A new peroxisomal disease with impaired phytanic and pipecolic acid oxidation. Neurology 43:2044-8

van den Brink DM, Brites P, Haasjes J, Wierzbicki AS, Mitchell J, Lambert-Hamill M, de Belleroche J, Jansen GA, Waterham HR, Wanders RJA (2003a) Identification of PEX7 as the Second Gene Involved in Refsum Disease. Am J Hum Genet 72:471-7

van den Brink DM, Brites P, Haasjes J, Wierzbicki AS, Mitchell J, Lambert-Hamill M, de Belleroche J, Jansen GA, Waterham HR, Wanders RJA (2003b) Identification of PEX7 as the second gene involved in Refsum disease. Adv Exp Med Biol 544:69-70

Wanders RJ, Jansen GA, Skjeldal OH (2001) Refsum disease, peroxisomes and phytanic acid oxidation: a review. J Neuropathol Exp Neurol 60:1021-31

Wierzbicki AS, Mitchell J, Lambert-Hammill M, Hancock M, Greenwood J, Sidey MC, de Belleroche J, Gibberd FB (2000) Identification of genetic heterogeneity in Refsum's disease. Eur J Hum Genet 8:649-651

Wierzbicki AS, Lloyd MD, Schofield CJ, Feher MD, Gibberd FB (2002) Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation. J Neurochem 80:727-35

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Page last updated 26 June 2006