| Literature DB >> 3929160 |
K Ohta, S Tsuji, Y Mizuno, T Atsumi, T Yahagi, T Miyatake.
Abstract
GM1 gangliosidosis is usually a pediatric disease caused by hereditary acid beta-galactosidase deficiency. There have been a few cases in adults. We saw a 51-year-old Japanese man with type 3 GM1 gangliosidosis who was manifesting dementia, dysarthria, gait disturbance, and limb rigidity. Radiologic studies showed platyspondylia, acetabular hypoplasia, and flattened femoral heads. Biochemical analysis revealed generalized acid beta-galactosidase deficiency.Entities:
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Year: 1985 PMID： 3929160 DOI： 10.1212/wnl.35.10.1490
Source DB: PubMed Journal: Neurology ISSN： 0028-3878 Impact factor: 9.910