Affiliations: [a] Department of Neurology, Hospital do Divino Espírito Santo, Ponta Delgada, Portugal | [b] Department of Neurosciences, Hospital de Santa Maria (CHLN, EPE), Lisbon, Portugal | [c] Faculty of Medicine, Institute of Molecular Medicine, University of Lisbon, Lisbon, Portugal | [d] Department of Neurology, Hospital de S. Bernardo, Centro Hospitalar de Setúbal, Setúbal, Portugal | [e] Department of Neurology, Hospital de Reynaldo dos Santos, Vila Franca de Xira, Portugal | [f] Laboratory of Neuropathology, Department of Neurosciences, Hospital de Santa Maria (CHLN, EPE), Lisbon, Portugal | [g] Laboratoire de Neuropathologie Escourolle, Hôpital de la Salpêtrière, Paris, France
Correspondence:
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Correspondence to: Carolina Pires, Department of Neurology, Hospital do Divino Espírito Santo, Av. D. Manuel I, 9500-370 Ponta Delgada, Portugal. Tel.: +351 296 203000; Fax: +351 296 203090; E-mail: mcarolinapires@gmail.com.
Abstract: The clinical phenotype of frontotemporal dementia patients carrying progranulin (GRN) mutations is known to be heterogeneous. We present a patient with corticobasal syndrome and a family with progressive aphasia and behavioral features who were found to have the same p.Gln257Profs*27 mutation. These cases depict the variability of GRN mutation carriers regarding clinical presentation and age of onset. In addition to giving a detailed report of a GRN mutation, we highlight the importance of searching for the presence of GRN mutations in selected sporadic cases and suggest a broadening of GRN genetic screening to better understand the clinical spectrum of these mutations.
