Adult α-mannosidosis -: Clinical progression in the absence of demyelination

被引：27

作者：

Gutschalk, A

Harting, I

Cantz, M

Springer, C

Rohrschneider, K

Meinck, HM

机构：

[1] Univ Heidelberg, Dept Neurol, D-6900 Heidelberg, Germany

[2] Univ Heidelberg, Dept Neuroradiol, D-6900 Heidelberg, Germany

[3] Univ Heidelberg, Dept Pathol, D-6900 Heidelberg, Germany

[4] Univ Heidelberg, Dept Ophthalmol, D-6900 Heidelberg, Germany

来源：

NEUROLOGY | 2004年 / 63卷 / 09期

关键词：

D O I：

10.1212/01.WNL.0000143057.25471.4F

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

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页码：1744 / 1746

页数：3

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