Literature DB >> 7287002

Biochemical, genetic, psychometric, and neuropsychological studies in heterozygotes of a family with globoid cell leucodystrophy (Krabbe's disease).

H Christomanou, S Jaffé, J Martinius, C Cáp, K Betke.   

Abstract

Detection of a patient suffering from Krabbe's disease led to carrier screening in his family. Determination of galactosylceramide beta-galactosidase activity revealed the occurrence of two different alleles among the carriers of the same family. Heterozygotes and their noncarrier relatives were studied using psychometric and neuropsychological tests under blind conditions. It was found that compared to seven adult noncarrier relatives 19 adult carriers differ significantly in their general IQ and some subtests of the Wechsler Intelligence Scale for adults (WISA), including spatial cognition. Reaction times were significantly slower in the carriers with enzyme activity below 25% of the control values. Most of the carriers of this family have had myopia since early childhood.

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Year:  1981        PMID： 7287002     DOI： 10.1007/BF00278707

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  11 in total

Review 1.  Biochemistry and genetics of gangliosidoses.

Authors:  K Sandhoff; H Christomanou
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

2.  Protein measurement with the Folin phenol reagent.

Authors:  O H LOWRY; N J ROSEBROUGH; A L FARR; R J RANDALL
Journal:  J Biol Chem       Date:  1951-11       Impact factor: 5.157

3.  The assay of sphingolipid hydrolases in white blood cells with labelled natural substrates.

Authors:  L Svennerholm; G Håkansson; J E Månsson; M T Vanier
Journal:  Clin Chim Acta       Date:  1979-02-15       Impact factor: 3.786

4.  Variation of arylsulphatase A: comparative studies of arylsulphatase A with synthetic and natural substrates in three families with metachromatic leucodystrophy.

Authors:  H Christomanou
Journal:  Neuropadiatrie       Date:  1978-11

5.  Intellectual level (IQ) in heterozygotes for phenylketonuria (PKU). Is the PKU gene also acting by means other than phenylalanine-blood level elevation?

Authors:  O Thalhammer; L Havelec; E Knoll; E Wehle
Journal:  Hum Genet       Date:  1977-10-14       Impact factor: 4.132

6.  Chemical pathology of krabbe's disease. IV. Studies of galactosylceramide and lactosylceramide BETA-galactosidases in brain, white blood cells and aminotic fluid cells.

Authors:  L Svennerholm; G Häkansson; M T Vanier
Journal:  Acta Paediatr Scand       Date:  1975-07

7.  Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood.

Authors:  J P Kampine; R O Brady; J N Kanfer; M Feld; D Shapiro
Journal:  Science       Date:  1967-01-06       Impact factor: 47.728

8.  Globoid cell leucodystrophy (Krabbe's disease): deficiency of galactocerebroside beta-galactosidase.

Authors:  K Suzuki; Y Suzuki
Journal:  Proc Natl Acad Sci U S A       Date:  1970-06       Impact factor: 11.205

9.  Intracellular phenylalanine and tyrosine concentrations in 19 heterozygotes for phenylketonuria (PKU) and 26 normals. Do the higher values in heterozygotes explain their lowered intellectual level?

Authors:  O Thalhammer; G Lubec; H Königshofer
Journal:  Hum Genet       Date:  1979-07-18       Impact factor: 4.132

10.  Biochemical, psychometric, and neuropsychological studies in heterozygotes for various lipidoses. Preliminary results.

Authors:  H Christomanou; J Martinius; S Jaffé; K Betke; C Förster
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132
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  8 in total

1.  Neuropsychological deficits in obligatory heterozygotes for metachromatic leukodystrophy.

Authors:  H Kohn; P Manowitz; M Miller; A Kling
Journal:  Hum Genet       Date:  1988-05       Impact factor: 4.132

2.  Electrophysiological findings of neuronal ceroid lipofuscinosis in heterozygotes.

Authors:  I Gottlob; K P Leipert; A Kohlschütter; H H Goebel
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1988       Impact factor: 3.117

Review 3.  Research strategies in human behaviour genetics.

Authors:  F Vogel
Journal:  J Med Genet       Date:  1987-03       Impact factor: 6.318

Review 4.  Inherited metabolic diseases affecting the carrier.

Authors:  W Endres
Journal:  J Inherit Metab Dis       Date:  1997-03       Impact factor: 4.982

5.  CRISPR-Cas9 Knock-In of T513M and G41S Mutations in the Murine β-Galactosyl-Ceramidase Gene Re-capitulates Early-Onset and Adult-Onset Forms of Krabbe Disease.

Authors:  Rima Rebiai; Emily Rue; Steve Zaldua; Duc Nguyen; Giuseppe Scesa; Martin Jastrzebski; Robert Foster; Bin Wang; Xuntian Jiang; Leon Tai; Scott T Brady; Richard van Breemen; Maria I Givogri; Mark S Sands; Ernesto R Bongarzone
Journal:  Front Mol Neurosci       Date:  2022-05-10       Impact factor: 6.261

6.  Diagnosis of metachromatic leukodystrophy, Krabbe disease, and Farber disease after uptake of fatty acid-labeled cerebroside sulfate into cultured skin fibroblasts.

Authors:  T Kudoh; D A Wenger
Journal:  J Clin Invest       Date:  1982-07       Impact factor: 14.808

7.  High-throughput screening of stem cell therapy for globoid cell leukodystrophy using automated neurophenotyping of twitcher mice.

Authors:  Brittni A Scruggs; Annie C Bowles; Xiujuan Zhang; Julie A Semon; Evan J Kyzar; Leann Myers; Allan V Kalueff; Bruce A Bunnell
Journal:  Behav Brain Res       Date:  2012-08-20       Impact factor: 3.332

8.  The influence of low arylsulfatase A activity on neuropsychiatric morbidity: a large-scale screening in patients.

Authors:  P Propping; W Friedl; M Huschka; K H Schlör; F Reimer; M Lee-Vaupel; E Conzelmann; K Sandhoff
Journal:  Hum Genet       Date:  1986-11       Impact factor: 4.132
  8 in total

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