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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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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 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.[1]

References

  1. Adult-onset MLD: a gene mutation with isolated polyneuropathy. Felice, K.J., Gomez Lira, M., Natowicz, M., Grunnet, M.L., Tsongalis, G.J., Sima, A.A., Kaplan, R.F. Neurology (2000) [Pubmed]
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