Adult alpha-mannosidosis: clinical progression in the absence of demyelination.
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.
Gutschalk
A
A
Department of Neurology, University of Heidelberg, Germany. Alexander_Gutschalk@meei.harvard.edu
Harting
I
I
Cantz
M
M
Springer
C
C
Rohrschneider
K
K
Meinck
H-M
HM
D000328:Adult; D001284:Atrophy; D002531:Cerebellum / Q000473:pathology; D003711:Demyelinating Diseases / Q000175:diagnosis; D018450:Disease Progression; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D008363:alpha-Mannosidosis / Q000175:diagnosis* / Q000473:pathology