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November 09, 2004; 63 (9) Brief Communications

Adult α-mannosidosis

Clinical progression in the absence of demyelination

A. Gutschalk, I. Harting, M. Cantz, C. Springer, K. Rohrschneider, H-M. Meinck
First published November 8, 2004, DOI: https://doi.org/10.1212/01.WNL.0000143057.25471.4F
A. Gutschalk
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I. Harting
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M. Cantz
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C. Springer
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K. Rohrschneider
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H-M. Meinck
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Citation
Adult α-mannosidosis
Clinical progression in the absence of demyelination
A. Gutschalk, I. Harting, M. Cantz, C. Springer, K. Rohrschneider, H-M. Meinck
Neurology Nov 2004, 63 (9) 1744-1746; DOI: 10.1212/01.WNL.0000143057.25471.4F

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Abstract

α-Mannosidosis is an inherited lysosomal storage disease. The authors report three siblings (ages 38 to 47 years) with the rare adult variant. All three had late-onset ataxia and retinal degeneration, adding to hearing loss, cognitive impairment, and dysotosis multiplex. One sibling also had psychosis. MRI revealed cerebellar atrophy and predominantly parieto-occipital white matter changes. MR spectroscopy showed no evidence for demyelination. It appears that the disabling course of adult α-mannosidosis is caused by lysosomal accumulation rather than demyelination.

  • Received March 30, 2004.
  • Accepted June 22, 2004.
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