Plasma Screening for Progranulin Mutations in Patients with Progressive Supranuclear Palsy and Corticobasal Syndromes

Daniela Galimberti, Kelly Bertram, Alessandra Formica, Chiara Fenoglio, Sara M G Cioffi, Andrea Arighi, Elio Scarpini, Carlo Colosimo, Piotr Lewczuk

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)445-449
Number of pages5
JournalJournal of Alzheimer's Disease
Volume53
Issue number2
DOIs
Publication statusPublished - 2016

Keywords

  • Corticobasal syndrome
  • Progranulin
  • Progressive supranuclear palsy syndrome
  • Tau
  • TDP-43

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Geriatrics and Gerontology
  • Clinical Psychology

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