title: D313Y mutation in the differential diagnosis of white matter lesions: Experiences from a multiple sclerosis outpatient clinic.
abstract: White matter lesions (WML) in younger patients might be due to a variety of neurological disorders. Fabry disease (FD), an x-linked inherited lysosomal storage disorder, happens to be misdiagnosed as multiple sclerosis (MS). In two middle-aged female patients, presenting bilateral WML, diagnosis of MS turned out to be doubtful. Human genetic analysis presented the Fabry mutation D313Y, in which clinical impact is still unclear. Disease manifestations outside the central nervous system were not detected. Our findings support the suspicion that Fabry mutation D313Y may be involved in neural damage resulting in WML.
authors.affiliation: Department of Neurology, Alfried Krupp Hospital, Essen, Germany.
authors.forename: Jana
authors.initials: J
authors.lastname: Becker
authors.affiliation: Albrecht-Kossel-Institute, University of Rostock, Rostock, Germany.
authors.forename: Arndt
authors.initials: A
authors.lastname: Rolfs
authors.affiliation: Child Neurology Clinic, University of Bochum, Bochum, Germany.
authors.forename: Nesrin
authors.initials: N
authors.lastname: Karabul
authors.affiliation: Department of Neurology, Alfried Krupp Hospital, Essen, Germany.
authors.forename: Peter
authors.initials: P
authors.lastname: Berlit
authors.affiliation: Department of Neurology, Alfried Krupp Hospital, Essen, Germany markus.kraemer@krupp-krankenhaus.de.
authors.forename: Markus
authors.initials: M
authors.lastname: Kraemer
mesh_terms: D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging*; D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D005260:Female; D006801:Humans; D056784:Leukoencephalopathies / Q000000981:diagnostic imaging* / Q000209:etiology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000175:diagnosis* / Q000000981:diagnostic imaging; D009154:Mutation; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: C576330:GLA protein, human; D000519:alpha-Galactosidase
keywords: Genetics; T2 lesions; magnetic resonance imaging; multiple sclerosis