Adult-onset MLD : A gene mutation with isolated polyneuropathy

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 Schwan...

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Veröffentlicht in:	Neurology 2000-10, Vol.55 (7), p.1036-1039
Hauptverfasser:	FELICE, K. J, GOMEZ LIRA, M, NATOWICZ, M, GRUNNET, M. L, TSONGALIS, G. J, SIMA, A. A. F, KAPLAN, R. F
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Age of Onset Biological and medical sciences Cerebroside-Sulfatase - metabolism Errors of metabolism Humans Leukodystrophy, Metachromatic - genetics Leukodystrophy, Metachromatic - metabolism Leukodystrophy, Metachromatic - physiopathology Lipids (lysosomal enzyme disorders, storage diseases) Male Medical sciences Metabolic diseases Mutation - genetics Neural Conduction - physiology Polyneuropathies - genetics Polyneuropathies - metabolism Polyneuropathies - physiopathology
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Zusammenfassung:	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.
ISSN:	0028-3878 1526-632X
DOI:	10.1212/WNL.55.7.1036