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Low arylsulphatase A activity and choreoathetotic syndrome in three siblings: differentiation of pseudodeficiency from metachromatic leukodystrophy

  • Neuropediatrics
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Abstract

We report on a family with a sibship of three children for whom the diagnosis of “an unusual form of metachromatic leukodystrophy (MLD)” had been suggested earlier. The patients had choreiform movements and dystomic posturing accompanied by dysarthria since childhood. The availability of the polymerase chain reaction enabled us to show that the three siblings have a pseudodeficiency genotype (ASAp/ASAp). There was no abnormal sulphatiduria, and we propose that the neurological disease and low arylsulphatase A activity are unrelated to one another in this family. A diagnosis of MLD carries very serious implications, and we recommend that gene amplification by polymerase chain reaction and hybridization with allele-specific oligonucleotide probes should be used to corroborate the diagnosis, especially when there is no abnormal sulphatiduria and when metachromatic material cannot be demonstrated in a sural nerve biopsy.

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Abbreviations

ASA:

arylsulphatase A

ASA+ :

normal allele

ASAp :

pseudodeficiency allele

MLD:

metachromatic leukodystrophy

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Authors and Affiliations

  1. Institut für Humangenetik der Universität, Wilhelmstrasse 31, W-5300, Bonn 1, Federal Republic of Germany

    J. Kappler & P. Propping

  2. Clinical Research Centre, Watford Road, HA1 3UJ, Harrow, UK

    R. W. E. Watts & D. A. Gibbs

  3. Institut für Physiologische Chemie, Koellikerstrasse 2, W-8700, Würzburg, Federal Republic of Germany

    E. Conzelmann

  4. Institut für Biochemie II, Gosslerstrasse 12d, W-3400, Göttingen, Federal Republic of Germany

    V. Gieselmann

Authors
  1. J. Kappler
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  2. R. W. E. Watts
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  3. E. Conzelmann
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  4. D. A. Gibbs
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  5. P. Propping
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  6. V. Gieselmann
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Kappler, J., Watts, R.W.E., Conzelmann, E. et al. Low arylsulphatase A activity and choreoathetotic syndrome in three siblings: differentiation of pseudodeficiency from metachromatic leukodystrophy. Eur J Pediatr 150, 287–290 (1991). https://doi.org/10.1007/BF01955534

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  • DOI: https://doi.org/10.1007/BF01955534

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