Investigations of micro-organic brain damage (MOBD) in heterozygotes of metachromatic leukodystrophy

American Journal of Medical Genetics

Volumn 110, Issue 4, 2002, Pages 315-319

  Tylki Szymańska, Anna ^a   Ługowska, Agnieszka ^b   Chmielik, Jolanta ^a   Kotowicz, Jerzy ^c   Jakubowska Winecka, Anna ^a   Zobel, Marta ^d   Berger, Johannes ^e   Molzer, Brunhilde ^d  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

^c Military Hospital Warszawa   (Poland)

^d UNIVERSITY OF VIENNA   (Austria)

^e MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

Heterozygotes; Metachromatic leukodystrophy; Microorganic brain damage

Indexed keywords

CEREBROSIDE SULFATASE; GENOMIC DNA;

ADULT; ARTICLE; BRAIN INJURY; CLINICAL ARTICLE; CLINICAL EXAMINATION; CONTROLLED STUDY; DNA DETERMINATION; FEMALE; GENETIC POLYMORPHISM; HETEROZYGOTE; HUMAN; MALE; METACHROMATIC LEUKODYSTROPHY; MUTATION; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSYCHOLOGIC TEST;

ADULT; BETA-GALACTOSIDASE; BRAIN DISEASES; CEREBROSIDE-SULFATASE; DNA; FEMALE; GENE FREQUENCY; GENOTYPE; HETEROZYGOTE; HUMANS; LEUKODYSTROPHY, METACHROMATIC; MALE; MIDDLE AGED; NEUROPSYCHOLOGICAL TESTS; SULFOGLYCOSPHINGOLIPIDS;

EID: 0037100071     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10369     Document Type: Article

References (13)

1. A pedigree study of metachromatic leukodystrophy
2. Coincidence of two novel arylsulfatase A alleles and mutation 459 + 1G > A within a family with metachromatic leukodystrophy: Molecular basis of phenotypic heterogeneity
3. Biochemical, psychometric, and neurophysiological studies in heterozygotes for various lipidoses
4. Partial enzyme deficiences: Residual activities and the development of neurological disorders
5. Metachromatic leukodystrophy: Multiple nonfunctional and pseudodeficiency alleles in a pedigree: Problems with diagnosis and counseling
6. An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy
7. Inheritance of the enzyme deficiency in three neurolipidoses: Variant 0 of Tay-Sachs disease (Sandhoff's disease), classic Tay-Sachs disease, and metachromatic leukodystrophy. Identification of the heterozygous carriers
8. Neuropsychological deficits in obligatory heterozygotes for metachromatic leukodystrophy
9. Quantitative correlation between the residual activity of β-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease
10. Elevated sulfatide excretion in compound heterozygotes of metachromatic leukodystrophy and ASA pseudodeficiency allele
11. Elevated sulfatide excretion in heterozygotes of metachromatic leukodystrophy: Dependence on reduction of arylsulfatase A activity
12. Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease
13. 1-gangliosidosis. A variant with high activity of hepatic neutral β-galactosidase