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Adult-onset MLD: A gene mutation with isolated polyneuropathy

From the Departments of Neurology (Dr. Felice), Pathology (Dr. Grunnet), and Psychiatry (Dr. Kaplan), University of Connecticut School of Medicine, Farmington; the Department of Mother and Child (Dr. Gomez Lira), Section of Biology and Genetics, University of Verona, Italy; the Division of Medical Genetics (Dr. Natowicz), Eunice Kennedy Shriver Center, Waltham; Harvard Medical School (Dr. Natowicz), Boston, MA; Department of Pathology (Dr. Tsongalis), Hartford Hospital, CT; and the Department of Pathology (Dr. Sima), Wayne State University, Detroit, MI.

Address correspondence and reprint requests to Dr. Kevin J. Felice, Department of Neurology, University of Connecticut School of Medicine, Farmington, CT 06035-1840; e-mail: felice{at}nso.uchc.edu

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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