Neurocognitive profile of adults with the Norrbottnian type of Gaucher disease.
Panagiota TsitsiIoanna MarkakiJosefine WaldthalerMaciej MachaczkaPer SvenningssonPublished in: JIMD reports (2021)
Norrbottnian GD3 patients showed a unique neurocognitive profile with low overall performance, mostly derived from low scores in attention and memory domains whereas language and visuospatial/constructional ability were relatively spared.