ISSN:
1432-1076
Schlagwort(e):
Arylsulphatase A
;
Metachromatic leukodystrophy
;
Arylsulphatase A pseudodeficiency
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Medizin
Notizen:
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.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/BF01955534
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