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Updated: Aug 16, 2026

ALS - Motor Neuron Disease: Mechanism and Development of New Therapies
Published on: July 29, 2007
Adult-onset MLD: a gene mutation with isolated polyneuropathy
K J Felice1, M Gomez Lira, M Natowicz
1Department of Neurology, University of Connecticut School of Medicine, Farmington 06035-1840, USA. felice@nso.uchc.edu
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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