Phenotypic variability associated with the C9ORF72 hexanucleotide repeat expansion: A sporadic case of frontotemporal lobar degeneration with prodromal hyposmia and predominant semantic deficits

Carlo Abbate, Beatrice Arosio, Daniela Galimberti, Paola Nicolini, Lo Russo Chiara, Paolo Dionigi Rossi, Evelyn Ferri, Cristina Gussago, Milena Deriz, Chiara Fenoglio, Maria Serpente, Elio Scarpini, Daniela Mari

Research output: Contribution to journalArticlepeer-review

Abstract

We describe a sporadic case of frontotemporal lobar degeneration, associated with the C9ORF72 mutation, with prominent behavioral changes and semantic deficits. Predominant deficits in naming, vocabulary, word comprehension, and face and object recognition emerged on neuropsychological assessment. Amnesia, behavioral changes, and isolated psychotic symptoms were also present. Hyposmia was an unspecific prodromal sign. Brain imaging showed basofrontal and temporopolar hypometabolism bilaterally, and predominantly left-sided atrophy. Levels of cerebrospinal fluid biomarkers (amyloid-β, tau and p-tau) were normal. This description further confirms the heterogeneous presentation of the C9ORF72 mutation.

Original languageEnglish
Pages (from-to)849-855
Number of pages7
JournalJournal of Alzheimer's Disease
Volume40
Issue number4
DOIs
Publication statusPublished - 2014

Keywords

  • C9ORF72
  • frontotemporal lobar degeneration
  • hyposmia
  • phenotype
  • semantic dementia

ASJC Scopus subject areas

  • Geriatrics and Gerontology
  • Clinical Psychology
  • Psychiatry and Mental health
  • Medicine(all)

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