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 language | English |
|---|---|
| Pages (from-to) | 669-674 |
| Number of pages | 6 |
| Journal | Journal of Alzheimer's Disease |
| Volume | 35 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - 2013 |
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Keywords
- frontotemporal dementia
- GRN Thr272fs
- phenotype
- progranulin
ASJC Scopus subject areas
- Psychiatry and Mental health
- Geriatrics and Gerontology
- Clinical Psychology
Cite this
GRN Thr272fs clinical heterogeneity : A case with atypical late onset presenting with a dementia with lewy bodies phenotype. / Arosio, Beatrice; Galimberti, Daniela; Rossi, Paolo Dionigi; Inglese, Silvia; Fenoglio, Chiara; Ridolfi, Elisa; Gussago, Cristina; Casati, Martina; Tedone, Enzo; Ferri, Evelyn; Serpente, Maria; Scarpini, Elio; Mari, Daniela.
In: Journal of Alzheimer's Disease, Vol. 35, No. 4, 2013, p. 669-674.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - GRN Thr272fs clinical heterogeneity
T2 - A case with atypical late onset presenting with a dementia with lewy bodies phenotype
AU - Arosio, Beatrice
AU - Galimberti, Daniela
AU - Rossi, Paolo Dionigi
AU - Inglese, Silvia
AU - Fenoglio, Chiara
AU - Ridolfi, Elisa
AU - Gussago, Cristina
AU - Casati, Martina
AU - Tedone, Enzo
AU - Ferri, Evelyn
AU - Serpente, Maria
AU - Scarpini, Elio
AU - Mari, Daniela
PY - 2013
Y1 - 2013
N2 - 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.
AB - 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.
KW - frontotemporal dementia
KW - GRN Thr272fs
KW - phenotype
KW - progranulin
UR - http://www.scopus.com/inward/record.url?scp=84878822406&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84878822406&partnerID=8YFLogxK
U2 - 10.3233/JAD-130053
DO - 10.3233/JAD-130053
M3 - Article
C2 - 23478307
AN - SCOPUS:84878822406
VL - 35
SP - 669
EP - 674
JO - Journal of Alzheimer's Disease
JF - Journal of Alzheimer's Disease
SN - 1387-2877
IS - 4
ER -