Neuronal migration abnormality in peroxisomal bifunctional enzyme defect

Annals of Neurology

Volumn 39, Issue 2, 1996, Pages 268-271

  Kaufmann, Walter E ^a,b   Theda, Christiane ^a   Naidu, Sakkubai ^a   Watkins, Paul A ^a   Moser, Ann B ^a   Moser, Hugo W ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; DENTATE NUCLEUS; DISORDERS OF PEROXISOMAL FUNCTIONS; ENZYME DEFECT; HUMAN; HUMAN TISSUE; MALE; MICROGYRIA; NEWBORN; PACHYGYRIA; PEROXISOME; PRIORITY JOURNAL; PURKINJE CELL; ZELLWEGER SYNDROME;

3-HYDROXYACYL COA DEHYDROGENASES; BRAIN DISEASES; CELL MOVEMENT; ENOYL-COA HYDRATASE; FATTY ACIDS; HUMANS; INFANT, NEWBORN; ISOMERASES; MALE; MULTIENZYME COMPLEXES; NEURONS; PEROXISOMAL DISORDERS; ZELLWEGER SYNDROME;

EID: 0030033412     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410390218     Document Type: Article

References (15)

1. Wilson GN, Holmes RG, Custer J, et al. Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy. Am J Med Genet 1986;24:69-82
2. Volpe JJ, Adams RD. Cerebro-hepato-renal syndrome of Zellweger: an inherited disorder of neuronal migration. Acta Neuropathol (Berl) 1972;20:175-198
3. Evrard P, Caviness VS, Prats-Vinas J, et al. The mechanism of arrest of neuronal migration in the Zellweger malformation: an hypothesis based upon cytoarchitectonic analysis. Acta Neuropathol (Berl) 1978;41:109-117
4. Watkins PA, Chen WW, Harris CJ, et al. Peroxisomal bifunctional enzyme deficiency. J Clin Invest 1989;83:771-777
5. Evans JE, Ghosh A, Evans BA, et al. Screening techniques for the detection of bile acid metabolism by direct injection and micro-high performance liquid chromatography-continuous flow/fast atom bombardment mass spectrometry. Biol Mass Spectrom 1993;22:331-337
6. Moser AB, Rasmussen M, Naidu S, et al. Phenotype of patients with peroxisomal disorders subdivided into 16 complementation groups. J Pediatr 1995;127:13-22
7. McGuinness MC, Moser AB, Poll-The BT, et al. Complementation analysis of patients with intact peroxisomes and impaired peroxisomal beta-oxidation. Biochem Med Metab Biol 1993; 49:228-242
8. du Plessis AJ, Kaufmann WE, Kupsky WJ. Intrauterine-onset myoclonic encephalopathy associated with cerebral cortical dysgenesis. J Child Neurol 1993;8:164-170
9. Watkins PA, McGuinness MC, Raymond GV, et al. Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiency. Ann Neurol 1995;38:472-477
10. 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;42:422-434
11. Chan-Palay V, Nilaver G, Palay SL, et al. Chemical heterogeneity in cerebellar Purkinje cells: existence and coexistence of glutamic acid decarboxylase-like and motilin-like immunoreactivities. Proc Natl Acad Sci USA 1981;78:7787-7791
12. Schram AW, Goldfischer S, van Roermund CT, et al. Human peroxisomal 3-oxoacyl-coenzymc A thiolase deficiency. Proc Natl Acad Sci USA 1987;84:2494-2496
13. Hoefler G, Forstner M, McGuinness MC, et al. cDNA cloning of the human peroxisomal enoyl-CoA hydratase: 3-hydroxy-acyl-CoA dehydrogenase bifunctional enzyme and localization to chromosome 3q26.3-3q28: a free left Alu arm is inserted in the 3′ noncoding region. Genomics 1994;19:60-67
14. Bjorkhem I, Sisfontes L, Bostrom B, et al. Simple diagnosis of the Zellweger syndrome by gas-liquid chromatography of dimethylacetals. J Lipid Res 1986;27:786-791
15. Roscher A, Molzer B, Bernheimer H, et al. The cerebrohepatorenal (Zellweger) syndrome: an improved method for the biochemical diagnosis and its potential value of prenatal detection. Pediatr Res 1985;19:930-933