title: Leukodystrophy incidence in Germany.
abstract: Through a survey of all departments of pediatrics, neurology and neuropathology in Germany, we calculated the incidence of all major forms of leukodystrophy. Only diagnoses based on specific biochemical tests in association with typical findings and/or neuroradiologically proven white matter involvement were accepted. In accordance with these strict criteria, 617 cases of leukodystrophy were found (incidence of all forms: app. 2.0/100,000). Minimal incidence was estimated at 0.8/100,000 for adrenoleukodystrophy/adrenomyeloneuropathy (ALD/AMN), 0.6/100,000 for metachromatic leukodystrophy (MLD), and 0.6/100,000 for Krabbe disease. Thus ALD/AMN is apparently underdiagnosed in Germany. A considerable proportion of leukodystrophies could not be classified in spite of adequate diagnostic procedures in experienced centers.
authors.affiliation: Department of Pediatrics, University of Hamburg, Germany.
authors.forename: P
authors.initials: P
authors.lastname: Heim
authors.forename: M
authors.initials: M
authors.lastname: Claussen
authors.forename: B
authors.initials: B
authors.lastname: Hoffmann
authors.forename: E
authors.initials: E
authors.lastname: Conzelmann
authors.forename: J
authors.initials: J
authors.lastname: Gärtner
authors.forename: K
authors.initials: K
authors.lastname: Harzer
authors.forename: D H
authors.initials: DH
authors.lastname: Hunneman
authors.forename: W
authors.initials: W
authors.lastname: Köhler
authors.forename: G
authors.initials: G
authors.lastname: Kurlemann
authors.forename: A
authors.initials: A
authors.lastname: Kohlschütter
mesh_terms: D000293:Adolescent; D000326:Adrenoleukodystrophy / Q000453:epidemiology; D000328:Adult; D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D005858:Germany / Q000453:epidemiology; D006801:Humans; D015994:Incidence; D007965:Leukodystrophy, Globoid Cell / Q000453:epidemiology; D007966:Leukodystrophy, Metachromatic / Q000453:epidemiology; D008297:Male; D012737:Sex Factors; D013106:Sphingolipidoses / Q000145:classification / Q000175:diagnosis / Q000453:epidemiology*