GRN Thr272fs clinical heterogeneity: A case with atypical late onset presenting with a dementia with lewy bodies phenotype

Beatrice Arosio, Daniela Galimberti, Paolo Dionigi Rossi, Silvia Inglese, Chiara Fenoglio, Elisa Ridolfi, Cristina Gussago, Martina Casati, Enzo Tedone, Evelyn Ferri, Maria Serpente, Elio Scarpini, Daniela Mari

Research output: Contribution to journalArticlepeer-review

Abstract

We describe a case of late onset frontotemporal dementia carrying the g.1977-1980 delCACT (Thr272fs) mutation in progranulin (GRN) gene, characterized by a positive family history for dementia and a clinical phenotype resembling dementia with Lewy bodies. Symptoms included prominent visuospatial impairment, complex misidentification syndrome, visual zooptic hallucinations, hypersomnia, mental fluctuations, and signs of parkinsonism. The patient showed normal cerebrospinal fluid levels of amyloid-β, tau, and Ptau biomarkers, an asymmetric pattern of cerebral atrophy and hypoperfusion, and parietal hypometabolism. A major contributing factor to the diagnosis was the testing of plasmatic progranulin levels (extremely low), which prompted us to sequence GRN.

Original languageEnglish
Pages (from-to)669-674
Number of pages6
JournalJournal of Alzheimer's Disease
Volume35
Issue number4
DOIs
Publication statusPublished - 2013

Keywords

  • frontotemporal dementia
  • GRN Thr272fs
  • phenotype
  • progranulin

ASJC Scopus subject areas

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

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