Adult-onset MLD: A gene mutation with isolated polyneuropathy
2000; Lippincott Williams & Wilkins; Volume: 55; Issue: 7 Linguagem: Inglês
10.1212/wnl.55.7.1036
ISSN1526-632X
AutoresKevin J. Felice, Macarena Gomez‐Lira, Marvin R. Natowicz, Margaret L. Grunnet, Gregory J. Tsongalis, Anders A. F. Sima, Roman Kaplan,
Tópico(s)Cystic Fibrosis Research Advances
ResumoArticle 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.
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