Article
A Novel Loss-of-Function GRN Mutation p.(Tyr229*): Clinical and Neuropathological Features.
Journal of Alzheimer's disease : JAD - 1 Jan 2017
Kuuluvainen Liina, Pöyhönen Minna, Pasanen Petra, Siitonen Maija, Rummukainen Jaana, Tienari Pentti J, Paetau Anders, Myllykangas Liisa
Abstract excerpt
Mutations in the progranulin (GRN) gene represent about 5-10% of frontotemporal lobar degeneration (FTLD). We describe a proband with a novel GRN mutation c.687T>A, p.(Tyr229*), presenting with dyspraxia, dysgraphia, and dysphasia at the age of 60 and a very severe FTLD neuropathological phenotype with TDP43 inclusions. The nephew of the proband had signs of dementia and personality changes at the age of 60 and...
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