title: Adult-onset MLD: a gene mutation with isolated polyneuropathy.
abstract: A 22-year-old man presented with recurrent ulnar mononeuropathies and diffusely slow nerve conduction velocities. Arylsulfatase A (ASA) activity from leukocytes and fibroblasts was reduced, and urinary sulfatides were increased. Sural nerve biopsy revealed a reduction in myelinated fibers and Schwann cell inclusions. Results of studies of CNS integrity, including cranial MRI, evoked potentials, and neuropsychologic tests, were normal. Molecular genetic analyses revealed a novel homozygous missense mutation (Thr286Pro) in the ASA gene.
authors.affiliation: Department of Neurology, University of Connecticut School of Medicine, Farmington 06035-1840, USA. felice@nso.uchc.edu
authors.forename: K J
authors.initials: KJ
authors.lastname: Felice
authors.forename: M
authors.initials: M
authors.lastname: Gomez Lira
authors.forename: M
authors.initials: M
authors.lastname: Natowicz
authors.forename: M L
authors.initials: ML
authors.lastname: Grunnet
authors.forename: G J
authors.initials: GJ
authors.lastname: Tsongalis
authors.forename: A A
authors.initials: AA
authors.lastname: Sima
authors.forename: R F
authors.initials: RF
authors.lastname: Kaplan
mesh_terms: D000328:Adult; D017668:Age of Onset; D002553:Cerebroside-Sulfatase / Q000378:metabolism; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D008297:Male; D009154:Mutation / Q000235:genetics; D009431:Neural Conduction / Q000502:physiology; D011115:Polyneuropathies / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology
chemical_list: D002553:Cerebroside-Sulfatase