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.
Felice
K J
KJ
Department of Neurology, University of Connecticut School of Medicine, Farmington 06035-1840, USA. felice@nso.uchc.edu
Gomez Lira
M
M
Natowicz
M
M
Grunnet
M L
ML
Tsongalis
G J
GJ
Sima
A A
AA
Kaplan
R F
RF
D000328:Adult; D017668:Age of Onset; D002553:Cerebroside-Sulfatase / Q000378:metabolism; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D008297:Male; D009154:Mutation / Q000235:genetics; D009431:Neural Conduction / Q000502:physiology; D011115:Polyneuropathies / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology
D002553:Cerebroside-Sulfatase