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 language | English |
|---|---|
| Pages (from-to) | 849-855 |
| Number of pages | 7 |
| Journal | Journal of Alzheimer's Disease |
| Volume | 40 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - 2014 |
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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
Phenotypic variability associated with the C9ORF72 hexanucleotide repeat expansion : A sporadic case of frontotemporal lobar degeneration with prodromal hyposmia and predominant semantic deficits. / Abbate, Carlo; Arosio, Beatrice; Galimberti, Daniela; Nicolini, Paola; Chiara, Lo Russo; Rossi, Paolo Dionigi; Ferri, Evelyn; Gussago, Cristina; Deriz, Milena; Fenoglio, Chiara; Serpente, Maria; Scarpini, Elio; Mari, Daniela.
In: Journal of Alzheimer's Disease, Vol. 40, No. 4, 2014, p. 849-855.Research output: Contribution to journal › Article
}
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 -