{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:04:57Z","timestamp":1792166697709,"version":"4.4.0"},"reference-count":29,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[1994,7,1]],"date-time":"1994-07-01T00:00:00Z","timestamp":773020800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1994,7]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulphatase A. The disease is characterized by a progressive demyelination that causes a variety of neurological symptoms. Patients die within a few years after the age of onset. Clinically the disease is heterogeneous and according to the age of onset three different forms can be distinguished. The gene of arylsulphatase A has been cloned and several mutations causing metachromatic leukodystrophy have been characterized. The distribution of these alleles among patients with different clinical forms of the disease has revealed a genotype\u2010phenotype correlation. A major determinant of the clinical phenotype is the residual enzyme activity that it associated with a particular genotype. Homozygosity for alleles that do not allow the synthesis of arylsulphatase A polypeptides causes the most severe form of disease, whereas homozygosity for alleles that encode arylsulphatase A with low residual enzyme activity is found in the mild late\u2010onset forms of disease. A substantial arylsulphatase A deficiency can also be found in healthy individuals at high frequency. This phenomenon has been termed pseudodeficiency. It is often difficult to distinguish whether an arylsulphatase A deficiency is due to metachromatic leukodystrophy or harmless pseudodeficiency. The characterization of the mutations causing pseudodeficiency has allowed the detection of the pseudodeficiency allele in the DNA of probands and has thus improved the diagnosis and genetic counselling for metachromatic leukodystrophy.<\/jats:p>","DOI":"10.1007\/bf00711364","type":"journal-article","created":{"date-parts":[[2004,11,30]],"date-time":"2004-11-30T10:30:41Z","timestamp":1101810641000},"page":"500-509","source":"Crossref","is-referenced-by-count":30,"title":["Molecular genetics of metachromatic leukodystrophy"],"prefix":"10.1002","volume":"17","author":[{"given":"V.","family":"Gieselmann","sequence":"first","affiliation":[{"name":"Department of Biochemistry II  Gosslerstr. 12d G\u00f6ttingen 37073 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Polten","sequence":"additional","affiliation":[{"name":"Department of Biochemistry II  Gosslerstr. 12d G\u00f6ttingen 37073 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Kreysing","sequence":"additional","affiliation":[{"name":"Department of Biochemistry II  Gosslerstr. 12d G\u00f6ttingen 37073 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"von Figura","sequence":"additional","affiliation":[{"name":"Department of Biochemistry II  Gosslerstr. 12d G\u00f6ttingen 37073 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1994,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1987.tb02772.x"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00204172"},{"key":"e_1_2_1_4_1","first-page":"191","article-title":"Very low arylsulfatase A and cerebroside sulfatase activity in leucocytes of healthy members of a metachromatic leukodystrophy family","volume":"29","author":"Dubois G","year":"1977","journal-title":"Am 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mutation in the arylsulfatase A gene of a patient with adult type metachromatic leukodystrophy","volume":"48","author":"Kondo R","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1990.tb19167.x"},{"key":"e_1_2_1_22_1","first-page":"339","article-title":"High residual enzyme activity in a patient with late infantile metachromatic leukodystrophy","volume":"53","author":"Kreysing J","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_23_1","first-page":"557","article-title":"Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurologic disease","volume":"52","author":"Penzien J","year":"1993","journal-title":"Am J Hum 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