Epilepsy in peroxisomal diseases

Epilepsia

Volumn 38, Issue 2, 1997, Pages 182-188

  Takahashi, Yukitoshi ^a   Suzuki, Yasuyuki ^b   Kumazaki, Kaori ^c   Tanabe, Rjryuzo ^d   Akaboshi, Shinjiro ^e   Miura, Kiyokuni ^f   Shimozawa, Nobuyuki ^g   Kondo, Naomi ^h   Nishiguchi, Toshihiro ⁱ   Terada, Kihei ^j   Orii, Tadao ^a  

^a GIFU UNIVERSITY   (Japan)

^b Tokyo Metropolitan Boknto General Hospital   (Japan)

^c CHIBA CHILDREN'S HOSPITAL   (Japan)

^d Tottori University   (Japan)

^e TOTTORI UNIVERSITY   (Japan)

^f Aichi Prefectural Colony Welfare Center for Persons H   (Japan)

^g Developmental Disabilities   (Japan)

^h MIYAZAKI PREFECTURAL MIYAZAKI HOSPITAL   (Japan)

ⁱ KAWASAKI MEDICAL SCHOOL   (Japan)

^j Chubii Women's College   (Japan)

more..

Author keywords

Epilepsy; Neuronal migration disorder; Peroxisomal disease; Zellweger syndrome

Indexed keywords

ADRENOLEUKODYSTROPHY; ARTICLE; CHILD; CHONDRODYSPLASIA PUNCTATA; CLINICAL ARTICLE; DISEASE SEVERITY; DISORDERS OF PEROXISOMAL FUNCTIONS; ENZYME DEFICIENCY; EPILEPTOGENESIS; FOCAL EPILEPSY; HUMAN; INFANT; INTRACTABLE EPILEPSY; MYOCLONUS SEIZURE; NEWBORN; ONSET AGE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; TONIC SEIZURE; ZELLWEGER SYNDROME;

ACYL-COA OXIDASE; ADRENOLEUKODYSTROPHY; ANTICONVULSANTS; BRAIN; CHILD; CHILD, PRESCHOOL; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC; ELECTROENCEPHALOGRAPHY; EPILEPSY; HUMANS; INFANT; INFANT, NEWBORN; MEDICAL RECORDS; OXIDOREDUCTASES; PEROXISOMAL DISORDERS; RETROSPECTIVE STUDIES; ZELLWEGER SYNDROME;

EID: 0031059374     PISSN: 00139580     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1528-1157.1997.tb01095.x     Document Type: Article

References (28)

1. Lazarow PB, Moser H\V. Disorders of peroxisome biogenesis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. 7th ed. New York: McGrawHill, 1994:2287-324.
2. Bowen P, Lee CSN, Zellweger H, Lindenberg R. A familial syndrome of multiple congenital defects. Bull Johns Hopkins Hasp 1954:114:402-14.
3. Goldfischer S, Moore CL, Johnson AB, et al. Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome. Science 1973:182:62-1.
4. Naritomi K, Hyakuna N, Suzuki Y, Orii T, Hirayama K. Zellweger syndrome and a microdeletion of the proximal long arm of chromosome 7. Hum Genet 1988:80:201-2.
5. Nakada Y, Hyakuna N, Suzuki Y, et al. A case of pseudoZellweger syndrome with a possible bifunctional enzyme deficiency but detectable enzyme protein: comparison of two cases of Zellweger syndrome. Brain Dev 1993;15:453-6.
6. Maeda K, Terada A, Murakami Y, et al. Clinical and biochemical analysis of infant with neonatal adrenoleukodystrophy. Nihon Shounika Gakkaishi 1990;94:1869-76. [Japanese]
7. Suzuki Y, Shimozawa N, Yajima S, et al. Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis. Am J Hum Genet 1994;54:36-43.
8. Commission on classification and terminology of the International League Against Epilepsy. Proposal for revised clinical and electroencephalographic classification of epileptic seizures. Epilepsia 1981:11:114-9.
9. Poznanski AK, Nosanchuk JS, Baublis J, Holt JF. The cerebrohepato-renal syndrome (CHRS) (Zellweger's syndrome). Am J Roentgenol 1970; 109:313-22.
10. Agamanolis DP, Robinson HB Jr, Timmons GD. Cerebro-hepatorenal syndrome: report of a case with histochemical and ultrastructural observations. J Neuropathol Exp Neural 1976;35:226-46.
11. Volpe JJ, Adams RD. Cerebro-hepato-renal syndrome of Zellweger: an inherited disorder of neuronal migration. Acta Neuropathol (Bert) 1972:20:175-98.
12. Evrard P, Caviness VS Jr, Prats-Vinas J, Lyon G. The mechanism of arrest of neuronal migration in the Zellweger malformation: an hypothesis based upon cytoarchitectonic analysis. Acta Neuropathol (Be rl) 1978:41:109-17.
13. Powers JM, Tummons RC, Caviness VS Jr, Moser AB, Moser HW. Structural and chemical alterations in the cerebral maldevelopment of fatal cerebro-hepato-renal (Zellweger) syndrome. J Neuropathol Exp Neural 1989;48:270-89.
14. Opitz JM, ZuRhein CM, Vitale L, et at. The Zellweger syndrome (cerebro-hepato-renal syndrome). Birth Defects 1969;5:144-58.
15. Gastaut H, Broughton R. Epileptic seizures: clinical and electrographic features, diagnosis and treatment. Springfield: Charles C Thomas, 1972.
16. Jan JE, Hardwick DF, Lowry RB, McCormick AQ. Cerebrohepato-renal syndrome of Zellweger. Am J Dis Child 1970; 119: 274-7.
17. Liu HM, Bangaru BS, Kidd J, Boggs J. Neuropathological considerations in cerebro-hepato-renal syndrome (Zellweger syndrome). Acta Neuropathol (Berl) 1976:34:115-23.
18. Brown FR III, Voigt R, Singh AK, Singh I. Peroxisomal disorders: neurodevelopmental and biochemical aspects. Am J Dis Child 1993:147:617-26.
19. Kelley RI, Datta NS, Dobyns WB, et al. Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndrome. Am J Med Genet 1986;23:869-901.
20. Aubourg P, Scotto J, Rocchicciolo F, Feldmann-Pautrat D, Robain O. Neonatal adrenoleukodystrophy. J Neural Neurosurg Psychiatry 1986:49:77-86.
21. Moser AB, Rasmussen M, Naibu S, et al. Phenotypes of patients with peroxisomal disorders subdivided into sixteen complementation groups. J Pediatr 1995:127:13-22.
22. Poll-The BT, Roels F, Ogier H, et al. A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy). Am J Hum Genet 1988:42:422-34.
23. Mandel H, Berant M, Aizin A, et al. Zellweger-like phenotype in two siblings: a defect in peroxisomal -oxidation with elevated very long-chain fatty acids but normal bile acids. / Inherit Metab Dis 1992;15:381-4.
24. Watkins PA, McGuinness MC, Raymond GV, et al. Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies. Ann Neural 1995;38:472-7.
25. Watkins PA, Chen WW, Harris JC, et al. Peroxisomal bifunctional enzyme deficiency. J Clin Invest 1989;83:771-7.
26. Kaufmann WE, Tbeda C, Naidu S, Mose AB, Moser HW. Zellweger-Iike neuronal migration abnormality in a patient with an isolated defect of peroxisomal fatty acid oxidation. Ann Neural 1991;30:497a.
27. Brul S, Westerveld A, Strijland A, et al. Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisome functions: a study using complementation analysis. / Clin Invest I988;81: 1710.
28. Yajima S, Suzuki Y, Shimozawa N, et al. Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells. Hum Genet 1992;88:491-9.