title: Adult alpha-mannosidosis: clinical progression in the absence of demyelination.
abstract: 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.
authors.affiliation: Department of Neurology, University of Heidelberg, Germany. Alexander_Gutschalk@meei.harvard.edu
authors.forename: A
authors.initials: A
authors.lastname: Gutschalk
authors.forename: I
authors.initials: I
authors.lastname: Harting
authors.forename: M
authors.initials: M
authors.lastname: Cantz
authors.forename: C
authors.initials: C
authors.lastname: Springer
authors.forename: K
authors.initials: K
authors.lastname: Rohrschneider
authors.forename: H-M
authors.initials: HM
authors.lastname: Meinck
mesh_terms: 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