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 journalArticle

5 Citations (Scopus)

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

Fingerprint

Frontotemporal Lobar Degeneration
Semantics
Prodromal Symptoms
Mutation
Amnesia
Vocabulary
Amyloid
Neuroimaging
Atrophy
Cerebrospinal Fluid
Biomarkers
Facial Recognition

Keywords

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

ASJC Scopus subject areas

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

Cite this

@article{4c95e96460404e24a7ee18f92a6fd53e,
title = "Phenotypic variability associated with the C9ORF72 hexanucleotide repeat expansion: A sporadic case of frontotemporal lobar degeneration with prodromal hyposmia and predominant semantic deficits",
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.",
keywords = "C9ORF72, frontotemporal lobar degeneration, hyposmia, phenotype, semantic dementia",
author = "Carlo Abbate and Beatrice Arosio and Daniela Galimberti and Paola Nicolini and Chiara, {Lo Russo} and Rossi, {Paolo Dionigi} and Evelyn Ferri and Cristina Gussago and Milena Deriz and Chiara Fenoglio and Maria Serpente and Elio Scarpini and Daniela Mari",
year = "2014",
doi = "10.3233/JAD-132075",
language = "English",
volume = "40",
pages = "849--855",
journal = "Journal of Alzheimer's Disease",
issn = "1387-2877",
publisher = "IOS Press",
number = "4",

}

TY - JOUR

T1 - Phenotypic variability associated with the C9ORF72 hexanucleotide repeat expansion

T2 - A sporadic case of frontotemporal lobar degeneration with prodromal hyposmia and predominant semantic deficits

AU - Abbate, Carlo

AU - Arosio, Beatrice

AU - Galimberti, Daniela

AU - Nicolini, Paola

AU - Chiara, Lo Russo

AU - Rossi, Paolo Dionigi

AU - Ferri, Evelyn

AU - Gussago, Cristina

AU - Deriz, Milena

AU - Fenoglio, Chiara

AU - Serpente, Maria

AU - Scarpini, Elio

AU - Mari, Daniela

PY - 2014

Y1 - 2014

N2 - 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.

AB - 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.

KW - C9ORF72

KW - frontotemporal lobar degeneration

KW - hyposmia

KW - phenotype

KW - semantic dementia

UR - http://www.scopus.com/inward/record.url?scp=84901775082&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84901775082&partnerID=8YFLogxK

U2 - 10.3233/JAD-132075

DO - 10.3233/JAD-132075

M3 - Article

VL - 40

SP - 849

EP - 855

JO - Journal of Alzheimer's Disease

JF - Journal of Alzheimer's Disease

SN - 1387-2877

IS - 4

ER -