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Neuropathology of peroxisomal diseases

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Journal of Inherited Metabolic Disease

Summary

This paper gives a description of the essential neuropathological techniques applied to the study of metabolic disorders affecting the nervous system. Subsequently, the neuropathological features of a series of peroxisomal disorders are described with special attention being paid to adrenoleukodystrophy.

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References

  • Aubourg P, Kremser K, Roland MO, Rocchiccioli F, Singh I (1993) Pseudo-infantile Refsum disease: catalase-deficient peroxisomal particles with partial deficiency of plasmalogen synthesis and oxidation of fatty acids.Pediatr Res 34: 270–276.

    Google Scholar 

  • Boutin B, Matsuguchi L, Lebon P, Ponsot G, Arthuis C (1989) Immunohistochemical analysis of brain macrophages in adrenoleukodystrophy.Neuropediatrics 20: 202–206.

    Google Scholar 

  • Chow CW, Poulos A, Fellenberg AJ, Christodoulou J, Danks DM (1992) Autopsy findings in two siblings with infantile Refsum disease.Acta Neuropathol (Bell) 83: 190–195.

    Google Scholar 

  • Gasser G (1961)Basic Neuropathological Technique. Oxford: Blackwell Scientific Publ.

    Google Scholar 

  • Hsu SM, Raine L, Fanger H (1981) Use of avidin-biotin peroxidase (ABC) complex in immunoperoxidase techniques: a comparison between ABC and unlabeled antibody (PAP) procedures.J Histochem Cytochem 29: 577–580.

    Google Scholar 

  • Iinuma K, Haginoya K, Handa I, et al (1980) Computed tomography, magnetic resonance imaging, positron emission tomography and evoked potentials at early stage of adrenoleukodystrophy.Tohoku J Exp Med 159: 195–203.

    Google Scholar 

  • Kamei A, Houdou S, Takashima S, Suzuki Y, Becker LE, Armstrong DL (1993) Peroxisomal disorders in children: immunohistochemistry and neuropathology.J Pediatr 122: 573–579.

    Google Scholar 

  • Kanda F, Inoue K, Jinnai K, Takahashi K, Mannen T (1989) A case of adrenomyeloneuropathy with localized cerebral white matter degeneration.Rinsho Shinkeigaku 29: 483–487

    Google Scholar 

  • Kurihara K, Kim H, Tamura N, Iwasaki S, Hamaguchi K (1991) A case of adrenoleukodystrophy presenting large lesion of the cerebellar white matter and dentate nuclei on brain CT and MRI.Rinsho Shinkeigaku 31: 72–78.

    Google Scholar 

  • Kusaka H, Imai T (1992) Ataxic variant of adrenoleukodystrophy: MRI and CT findings.J Neurol 239: 307–310.

    Google Scholar 

  • Kyllerman M, Blomstrand S, Mansson JE, Conradi NG, Hindmarsh T (1990) Central nervous system malformations and white matter changes in pseudo-neonatal adrenoleukodystrophy.Neuropediatrics 21: 199–201.

    Google Scholar 

  • Lazarow PB, Small GM, Santos M et al (1988) Zellweger syndrome amniocytes: morphological appearance and a simple sedimentation method for prenatal diagnosis.J Pediatr Res 24: 63–67.

    Google Scholar 

  • Martin J-J, Ceuterick C, Libert J (1980) Skin and conjunctival nerve biopsies in adrenoleukodystrophy and its variants.Ann Neurol 8: 291–295.

    Google Scholar 

  • Mito T, Takada K, Akaboshi S, Takashima S, Takeshita K, Origuchi Y (1989) A pathological study of a peripheral nerve in a case of neonatal adrenoleukodystrophy.Acta Neuropathol (Berl) 77: 437–440.

    Google Scholar 

  • Molzer B, Gullotta F, Harzer K, Poulos A, Bernheimer H (1993) Unusual orthochromatic leukodystrophy with epitheloid cells (Norman-Gullotta): increase of very long chain fatty acids in brain discloses a peroxisomal disorder.Acta Neuropathol (Berl) 86: 187–189.

    Google Scholar 

  • Moser HW, Bergin A, Cornblath D (1991) Peroxisomal disorders.Biochem Cell Biol 69: 463–474.

    Google Scholar 

  • Mosser J, Douar AM, Sarde CO, et al (1993) Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters.Nature 361: 726–730.

    Google Scholar 

  • Murai H, Sasagasako N, Yoshimura T, Kira J, Goto I (1992) Gadolinium-MRI findings of two adrenoleukodystrophy cases treated with gamma-globulin.Rinsho Shinkeigaku 32: 416–420.

    Google Scholar 

  • Naidu S, Hoefler G, Watkins PA, et al (1988) Neonatal seizures and retardation in a girl with biochemical features of X-linked adrenoleukodystrophy: a possible new peroxisomal disease entity.Neurology 38: 1100–1107.

    Google Scholar 

  • Poll-The BT, Roels F, Ogier H, et al (1988) A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy).Am J Hum Genet 42: 422–434.

    Google Scholar 

  • Powers JM (1985) Adreno-leukodystrophy (adreno-testiculo-leukomyelo-neuropathic-complex)Clin Neuropathol 4: 181–199.

    Google Scholar 

  • Powers JM, Tummons RC, Caviness VS Jr, Moser AB, Moser HW (1989) Structural and chemical alterations in the cerebral maldevelopment of fetal cerebro-hepato-renal (Zellweger) syndrome.J Neuropathol Exp Neurol 48: 270–289.

    Google Scholar 

  • Powers JM, Liu Y, Moser AB, Moser HW (1992) The inflammatory myelinopathy of adrenoleukodystrophy: cells, effector molecules, and pathogenetic implications.J Neuropathol Exp Neurol 51: 630–643.

    Google Scholar 

  • Roels F, Verdonck V, Pauwels M, et al (1987) Light microscopic visualization of peroxisomes and plasmalogens in first trimester chorionic villi.Prenat Diagn 7: 525–530.

    Google Scholar 

  • Roels F, Espeel M, De Craemer D (1991) Liver pathology and immunocytochemistry in congenital peroxisomal diseases: a review.J Inher Metab Dis 14: 853–875.

    Google Scholar 

  • Roels F, Espeel M, Poggi F, Mandel H, Van Maldergem L, Saudubray JM (1993) Human liver pathology in peroxisomal diseases: a review including novel data.Biochimie 75: 281–292.

    Google Scholar 

  • Romeis B (1948)Mikroskopische Technik. Munich: Leibniz Verlag.

    Google Scholar 

  • Schaumburg HH, Powers JM, Raine CS, Suzuki K, Richardson EP Jr (1975) Adrenoleukodystrophy. A clinical and pathological study of 17 cases.Arch Neurol 32: 577–591.

    Google Scholar 

  • Shiga Y, Saito H, Mochizuki H, Chida K, Tsuburaya K (1992) A case of adrenoleukodystrophy having progressed from the frontal lobes.Rinsho Shinkeigaku 32: 600–605.

    Google Scholar 

  • Snyder RD, King JN, Keck GM, Orrison WW (1991) MR imaging of the spinal cord in 23 subjects with ALD-AMN complex.Am J Neuroradiol 12: 1095–1098.

    Google Scholar 

  • Sternberger LA, Hardy PH, Cuculis JJ, Meyer HG (1970) The unlabeled antibody enzyme method of immunohistochemistry: preparation and properties of soluble antigen-antibody complex (horseradish peroxidase-antihorseradish peroxidase) and its use in the identification of spirochetes.J Histochem Cytochem 18: 315–333.

    Google Scholar 

  • Tager JM, Brul S, Wiemer EA, et al (1990) Genetic relationship between the Zellweger syndrome and other peroxisomal disorders characterized by an impairment in the assembly of peroxiosomes.Prog Clin Biol Res 321: 545–558.

    Google Scholar 

  • Takashima S, Chan F, Becker LE, Houdou S, Suzuki Y (1991) Cortical cytoarchitectural and immunohistochemical studies on Zellweger syndrome.Brain Dev 13: 158–162.

    Google Scholar 

  • Takashima S, Houdou S, Kamei J, et al (1992) Neuropathology of peroxisomal disorders, Zellweger syndrome and neonatal adrenoleukodystrophy.No To Hattatsu 24: 186–193.

    Google Scholar 

  • Takeda S, Ohama E, Ikuta F (1989) Adrenoleukodystrophy. Early ultrastructural changes in the brain.Acta Neuropathol (Berl) 178: 124–130.

    Google Scholar 

  • Taniike M, Fujimura H, Kogaki S, et al (1992) A case of pigmentary type of orthochromatic leukodystrophy with early onset and globoid cells.Acta Neuropathol (Berl) 83: 427–433.

    Google Scholar 

  • Torvik A, Torp S, Kase BF, Ek J, Skjeldal O, Stokke O (1988) Infantile Refsum's disease: a generalized peroxisomal disorder. Case report with postmortem examination.J Neurol Sci 85: 39–53.

    Google Scholar 

  • Uyama E, Iwagoe H, Maeda J, Nakamura M, Terasaki T, Ando M (1993) Presenile-onset cerebral adrenoleukodystrophy presenting as Balint's syndrome and dementia.Neurology 43: 1249–1251.

    Google Scholar 

  • Van Maldergem L, Espeel M, Wanders RJA, et al (1992) Neonatal seizures and severe hypotonia in a male infant suffering from a defect in peroxisomal beta-oxidation.Neuromuscular Dis 2: 217–224.

    Google Scholar 

  • van der Knaap MS, Valk J (1991) The MR spectrum of peroxisomal disorders.Neuroradiology 33: 30–37.

    Google Scholar 

  • Vercruyssen A, Martin J-J, Mercelis R (1982) Neurophysiological studies in adrenomyeloneuropathy. A report on five cases.J Neurol Sci 56: 327–336.

    Google Scholar 

  • Wanders RJ, Heymans HS, Schutgens RB, Barth PG, van den Bosch H, Tager JM (1988) Peroxisomal disorders in neurology.J Neurol Sci 88: 1–39.

    Google Scholar 

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  1. Born-Bunge Foundation and University of Antwerp, Universiteitsplein 1, B-2610, Wilrijk, Antwerp, Belgium

    J. -J. Martin

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Martin, J.J. Neuropathology of peroxisomal diseases. J Inherit Metab Dis 18 (Suppl 1), 19–33 (1995). https://doi.org/10.1007/BF00711426

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