Affiliations: [a] Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione Ca’ Granda, IRCCS Ospedale Policlinico, Milan, Italy | [b] Department of Neurosciences, Faculty of Medicine Nursing and Health Sciences, Monash University, Melbourne, Australia | [c] Dipartimento di Neurologia e Psichiatria, Sapienza Università di Roma, Italy | [d] Dipartimento di Neuroscienze, Azienda Ospedaliero-Universitaria Santa Maria, Terni, Italy
Correspondence:
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Correspondence to: Daniela Galimberti, Neurology Unit, Department of Pathophysiology and Transplantation, University of Milan, Fondazione Ca’ Granda, IRCCS Ospedale Policlinico, Milan, Italy. Tel.: +390255033847; Fax: +390255036580; E-mail: [email protected].
Abstract: Progranulin gene (GRN) mutations are characterized by heterogeneous presentations. Corticobasal syndrome (CBS) is often associated with GRN mutations, whereas association with progressive supranuclear palsy syndrome (PSPS) is rare. Plasma progranulin levels were evaluated in 34 patients, including 19 with PSPS, 12 with CBS, and 3 with mixed signs, with the purpose to screen for the presence of causal mutations, associated with low levels. We found undetectable levels in a patient with CBS. Sequencing confirmed the presence of the Thr272fs deletion. Progranulin mutation screening is suggested in cases of CBS, even in the absence of positive family history for dementia and/or movement disorders.
