Affiliations: [a] Department of Clinical and Experimental Sciences, Neurology Unit, University of Brescia, Brescia, Italy
| [b] Department of Diagnostics, Biotechnology Laboratory, Brescia Hospital, Brescia, Italy
Correspondence:
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Correspondence to: Barbara Borroni, MD, Department of Clinical and Experimental Sciences, Neurology Unit, University of Brescia, Piazza Spedali Civili 1, Brescia 25125, Italy. Tel.: +39 0303995632; Fax: +39 0303995014; E-mail: [email protected].
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.
