Adult-onset MLD: a gene mutation with isolated polyneuropathy.
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Felice KJ, Gomez Lira M, Natowicz M, Grunnet ML, Tsongalis GJ, Sima AA, Kaplan RF
Adult-onset MLD: a gene mutation with isolated polyneuropathy.
Neurology. 2000 Oct 10;55(7):1036-9.
- PubMed ID
- 11061266 [ View in PubMed]
- 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.