1. Frontotemporal Dementia due to the Novel GRN Arg161GlyfsX36 Mutation
- Author
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Stefano Gazzina, Barbara Borroni, Silvana Archetti, Maura Cosseddu, Elisa Bonomi, Antonella Alberici, Alessandro Padovani, and Diego Di Lorenzo
- Subjects
Male ,0301 basic medicine ,Heterozygote ,In silico ,Granulin ,Biology ,medicine.disease_cause ,Primary progressive aphasia ,03 medical and health sciences ,Exon ,Progranulins ,0302 clinical medicine ,mental disorders ,medicine ,Humans ,Gene ,Genetics ,Mutation ,General Neuroscience ,Brain ,Heterozygote advantage ,General Medicine ,Middle Aged ,medicine.disease ,Psychiatry and Mental health ,Clinical Psychology ,Aphasia, Primary Progressive ,030104 developmental biology ,Frontotemporal Dementia ,Intercellular Signaling Peptides and Proteins ,Geriatrics and Gerontology ,030217 neurology & neurosurgery ,Frontotemporal dementia - Abstract
Progranulin is a multifunctional growth factor mainly expressed in neurons and microglia. Loss-of-function mutations in the Granulin (GRN) gene are causative of frontotemporal dementia with TAR DNA-binding protein-43 inclusions. We reported the case of a 51-year-old male patient affected by sporadic agrammatic variant of primary progressive aphasia, in whom we identified a novel heterozygous deletion in the exon 6 (g.10338_39delAG, p.Arg161GlyfsX36). Plasma progranulin levels were significantly reduced and in silico analysis predicted a premature termination codon. This case expands our knowledge on GRN mutations in frontotemporal dementia.
- Published
- 2017
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