Molecular and clinical findings and diagnostic flowchart of peroxisomal diseases

Brain and Development

Volumn 33, Issue 9, 2011, Pages 770-776

  Shimozawa, Nobuyuki ^a  

^a GIFU UNIVERSITY   (Japan)

Author keywords

Adrenoleukodystrophy; Diagnostic screening system; Peroxisomal diseases; Zellweger syndrome

Indexed keywords

2 METHYLACYL COENZYME A RACEMASE; ABC TRANSPORTER; ACYL COENZYME A OXIDASE; ALANINE GLYOXYLATE AMINOTRANSFERASE; ANTICONVULSIVE AGENT; DIHYDROXYACETONE PHOSPHATE ACYLTRANSFERASE; PEROXIN 19;

2 METHYLACYL COENZYME A RACEMASE DEFICIENCY; ACYL COENZYME A OXIDASE DEFICIENCY; ADRENOLEUKODYSTROPHY; ATTENTION DEFICIT DISORDER; CATALASE DEFICIENCY; CELL DIFFERENTIATION; CELL MIGRATION; CHILDHOOD ADRENOLEUKODYSTROPHY; CHONDRODYSPLASIA PUNCTATA; CLINICAL ASSESSMENT; CONTIGUOUS GENE SYNDROME; DELTA BIFUNCTIONAL PROTEIN DEFICIENCY; DIHYDROXYACETONE PHOSPHATE ACYLTRANSFERASE DEFICIENCY; DISORDERS OF PEROXISOMAL FUNCTIONS; FATTY ACID OXIDATION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; INFANTILE REFSUM DISEASE; JAPANESE; METABOLIC DISORDER; MOLECULAR DIAGNOSIS; NERVE CELL DEGENERATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OXALOSIS 1; PHENOTYPE; PHOSPHOLIPID SYNTHESIS; PROGNOSIS; PROMOTER REGION; REFSUM DISEASE; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; STEM CELL GENE THERAPY; STEROL CARRIER PROTEIN X DEFICIENCY; TONIC CLONIC SEIZURE; ZELLWEGER SYNDROME;

HUMANS; PEROXISOMAL DISORDERS;

EID: 80051475306     PISSN: 03877604     EISSN: 18727131     Source Type: Journal    
DOI: 10.1016/j.braindev.2011.03.004     Document Type: Review

References (21)

1. Shimozawa N. Molecular and clinical aspects of peroxisomal diseases. J Inher Metab Dis 2007, 30:193-197.
2. Shimozawa N., Tsukamoto T., Nagase T., Takemoto Y., Koyama N., Suzuki Y., et al. Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene. Hum Mutat 2004, 23:552-558.
3. Steinberg S.J., Dodt G., Raymond G.V., Braverman N.E., Moser A.B., Moser H.W. Peroxisome biogenesis disorders. Biochim Biophys Acta 2006, 1763:1733-1748.
4. Shimozawa N., Suzuki Y., Zhang Z., Imamura A., Kondo N., Kinoshita N., et al. Genetic basis of peroxisome assembly mutants of humans, CHO cells and yeast: identification of a new complementation group of peroxisome biogenesis disorders, absent from peroxisomal membrane ghosts. Am J Hum Genet 1998, 63:1898-1903.
5. Govaerts L., Colon E., Rotteveel J., Monnens L. A neurophysiological study of children with the cerebro-hepato-renal syndrome of Zellweger. Neuropediatrics 1985, 16:185-190.
6. Takahashi Y., Suzuki Y., Kumazaki K., Tanabe Y., Akaboshi S., Miura K., et al. Epilepsy in peroxisomal diseases. Epilepsia 1997, 38:182-188.
7. Ulrich J., Herschkowitz N., Heitz P., Sigrist T., Baerlocher P. Adrenoleukodystrophy. Preliminary report of a connatal case. Light- and electron microscopical, immunohistochemical and biochemical findings. Acta Neuropathol 1978, 43:77-83.
8. Poll-The B.T., Gootjes J., Duran M., De Klerk J.B., Wenniger-Prick L.J., Admiraal R.J., et al. Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients. Am J Med Genet A 2004, 126A:333-338.
9. Moser H.W., Smith K.D., Watkins P.A., Powers J., Moser A.B. X-linked adrenoleukodystrophy. The metabolic and molecular basis of inherited disease 2001, 3257-3301. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
10. Takemoto Y., Suzuki Y., Tamakoshi A., Onodera O., Tsuji S., Hashimoto T., et al. Epidemiology of X-linked adrenoleukodystrophy in Japan. J Hum Genet 2002, 47:590-593.
11. Suzuki Y., Takemoto Y., Shimozawa N., Imanaka T., Kato S., Furuya H., et al. Natural history of X-linked adrenoleukodystrophy in Japan. Brain Dev 2005, 27:353-357.
12. Ohno T., Tsuchida H., Fukuhara N., Yuasa T., Harayama H., Tsuji S., et al. Adrenoleukodystrophy: a clinical variant presenting as olivopontocerebellar atrophy. J Neurol 1984, 231:167-169.
13. Peters C., Charnas L.R., Tan Y., Ziegler R.S., Shapiro E.G., DeFor T., et al. Cerebral X-linked adrenoleukodystrophy: the international hematopoietic cell transplantation experience from 1982 to 1999. Blood 2004, 104:881-888.
14. Hubbard W.C., Moser A.B., Liu A.C., Jones R.O., Steinberg S.J., Lorey F., et al. Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method. Mol Genet Metab 2009, 97:212-220.
15. Cartier N., Hacein-Bey-Abina S., Bartholomae C.C., Veres G., Schmidt M., Kutschera I., et al. Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. Science 2009, 326:818-823.
16. Wanders R.J.A., Barth P.G., Heymans H.S. Single peroxisomal enzyme deficiencies. The metabolic and molecular basis of inherited disease 2001, 3219-3256. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
17. Ferdinandusse S., Kostopoulos P., Denis S., Rusch H., Overmars H., Dillmann U., et al. Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukoencephalopathy with dystonia and motor neuropathy. Am J Hum Genet 2006, 78:1046-1052.
18. Wanders R.J.A., Waterham H.R. Peroxisomal disorders: the single peroxisomal enzyme deficiencies. Biochim Biophys Acta 2006, 1763:1707-1720.
19. Corzo D., Gibson W., Johnson K., Mitchell G., LePage G., Cox G.F., et al. Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. Am J Hum Genet 2002, 70:1520-1531.
20. Takemoto Y., Suzuki Y., Horibe R., Shimozawa N., Wanders R.J., Kondo N. Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders. Brain Dev 2003, 25:481-487.
21. Shimozawa N., Nagase T., Takemoto Y., Suzuki Y., Kondo N. Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation. Am J Med Genet A 2003, 120A:40-43.