Adult α-mannosidosis
Clinical progression in the absence of demyelination
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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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