부산대학교 도서관

Over 90% of GM1-gangliosidosis type III cases present with progressive dystonia, which is usually moderate-to-severe and generalized.2,5 In our report, the affected brother (II-2) presented with minimal dystonia if any but parkinsonism over the disease course of 19 years. Keywords: GM1-gangliosidosis; GLB1; parkinsonism; dystonia; genetics EN GM1-gangliosidosis GLB1 parkinsonism dystonia genetics S21 S23 3 09/06/21 20210802 NES 210802 I GLB1 i encodes beta-galactosidase-1, a lysosomal hydrolase that cleaves the terminal beta-galactose from ganglioside substrates. No impaired saccades and limited vertical gaze, seen in our cases, have previously been reported in GM1-gangliosidosis type III.2,4 The presented MRI finding is typical of GM1-gangliosidosis type III and Glutaric aciduria type 1.6 The discussed features seem to expand the clinico-genetic phenotype of the disease. [Extracted from the article]