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NEUROLOGY 2004;63:1744-1746
© 2004 American Academy of Neurology
Brief Communications

Adult {alpha}-mannosidosis

Clinical progression in the absence of demyelination

A. Gutschalk, MD, I. Harting, MD, M. Cantz, MD, C. Springer, MD, K. Rohrschneider, MD and H-M. Meinck, MD

From the Departments of Neurology (Drs. Gutschalk and Meinck), Neuroradiology (Dr. Harting), Pathology (Dr. Cantz), and Ophthalmology (Drs. Springer and Rohrschneider), University of Heidelberg, Germany.

Address correspondence and reprint requests to Dr. Alexander Gutschalk, Eaton-Peabody Laboratory, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114; e-mail: Alexander_Gutschalk{at}meei.harvard.edu

{alpha}-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 {alpha}-mannosidosis is caused by lysosomal accumulation rather than demyelination.

Received March 30, 2004. Accepted in final form June 22, 2004.




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Neurocognitive and Psychotiform Behavioral Alterations and Enhanced Hippocampal Long-Term Potentiation in Transgenic Mice Displaying Neuropathological Features of Human {alpha}-Mannosidosis
J. Neurosci., July 13, 2005; 25(28): 6539 - 6549.
[Abstract] [Full Text] [PDF]


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