Abstract
We report the case of a woman firstly referred to our Memory Clinic at the age of 61, following the development of cognitive complaints and difficulties in sustained attention. The investigation that was performed showed: predominant executive dysfunctions at the neuropsychological evaluation, with mild, partial and stable involvement of the memory domain; cortical and subcortical atrophy with well-preserved hippocampal structures at MRI; marked fronto-temporal and moderate parietal hypometabolism from 18 F-FDG PET study with a sparing of the posterior cingulate and precuneus; positivity of amyloid-β at 18 F-Flutemetamol PET; an hexanucleotide intermediate repeats expansion of C9ORF72 gene (12//38 repeats) and ApoE genotype ϵ4/ϵ4. The patient was diagnosed with probable early onset frontal variant of Alzheimer's disease (AD), presenting with a major executive function impairment. The lack of specific areas of brain atrophy, as well as the failure to meet the clinical criteria for any frontotemporal dementia, drove us to perform the aforementioned investigations, which yielded our final diagnosis. The present case highlights the need to take into consideration a diagnosis of frontal variant of AD when the metabolic and the clinical picture are somehow dissonant.
| Original language | English |
|---|---|
| Pages (from-to) | 985-993 |
| Number of pages | 9 |
| Journal | Journal of Alzheimer's Disease |
| Volume | 67 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - Jan 1 2019 |
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Keywords
- ApoE
- C9ORF72 HREs
- early onset Alzheimer's disease
- FDG PET
- TREDEM Registry
ASJC Scopus subject areas
- Neuroscience(all)
- Clinical Psychology
- Geriatrics and Gerontology
- Psychiatry and Mental health
Cite this
A Case with Early Onset Alzheimer's Disease, Frontotemporal Hypometabolism, ApoE Genotype ϵ 4/ ϵ 4 and C9ORF72 Intermediate Expansion : A Treviso Dementia (TREDEM) Registry Case Report. / Gallucci, Maurizio; Dell'Acqua, Carola; Bergamelli, Cristina; Fenoglio, Chiara; Serpente, Maria; Galimberti, Daniela; Fiore, Vittorio; Medea, Stefano; Gregianin, Michele; Di Battista, Maria Elena.
In: Journal of Alzheimer's Disease, Vol. 67, No. 3, 01.01.2019, p. 985-993.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - A Case with Early Onset Alzheimer's Disease, Frontotemporal Hypometabolism, ApoE Genotype ϵ 4/ ϵ 4 and C9ORF72 Intermediate Expansion
T2 - A Treviso Dementia (TREDEM) Registry Case Report
AU - Gallucci, Maurizio
AU - Dell'Acqua, Carola
AU - Bergamelli, Cristina
AU - Fenoglio, Chiara
AU - Serpente, Maria
AU - Galimberti, Daniela
AU - Fiore, Vittorio
AU - Medea, Stefano
AU - Gregianin, Michele
AU - Di Battista, Maria Elena
PY - 2019/1/1
Y1 - 2019/1/1
N2 - We report the case of a woman firstly referred to our Memory Clinic at the age of 61, following the development of cognitive complaints and difficulties in sustained attention. The investigation that was performed showed: predominant executive dysfunctions at the neuropsychological evaluation, with mild, partial and stable involvement of the memory domain; cortical and subcortical atrophy with well-preserved hippocampal structures at MRI; marked fronto-temporal and moderate parietal hypometabolism from 18 F-FDG PET study with a sparing of the posterior cingulate and precuneus; positivity of amyloid-β at 18 F-Flutemetamol PET; an hexanucleotide intermediate repeats expansion of C9ORF72 gene (12//38 repeats) and ApoE genotype ϵ4/ϵ4. The patient was diagnosed with probable early onset frontal variant of Alzheimer's disease (AD), presenting with a major executive function impairment. The lack of specific areas of brain atrophy, as well as the failure to meet the clinical criteria for any frontotemporal dementia, drove us to perform the aforementioned investigations, which yielded our final diagnosis. The present case highlights the need to take into consideration a diagnosis of frontal variant of AD when the metabolic and the clinical picture are somehow dissonant.
AB - We report the case of a woman firstly referred to our Memory Clinic at the age of 61, following the development of cognitive complaints and difficulties in sustained attention. The investigation that was performed showed: predominant executive dysfunctions at the neuropsychological evaluation, with mild, partial and stable involvement of the memory domain; cortical and subcortical atrophy with well-preserved hippocampal structures at MRI; marked fronto-temporal and moderate parietal hypometabolism from 18 F-FDG PET study with a sparing of the posterior cingulate and precuneus; positivity of amyloid-β at 18 F-Flutemetamol PET; an hexanucleotide intermediate repeats expansion of C9ORF72 gene (12//38 repeats) and ApoE genotype ϵ4/ϵ4. The patient was diagnosed with probable early onset frontal variant of Alzheimer's disease (AD), presenting with a major executive function impairment. The lack of specific areas of brain atrophy, as well as the failure to meet the clinical criteria for any frontotemporal dementia, drove us to perform the aforementioned investigations, which yielded our final diagnosis. The present case highlights the need to take into consideration a diagnosis of frontal variant of AD when the metabolic and the clinical picture are somehow dissonant.
KW - ApoE
KW - C9ORF72 HREs
KW - early onset Alzheimer's disease
KW - FDG PET
KW - TREDEM Registry
UR - http://www.scopus.com/inward/record.url?scp=85061756896&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85061756896&partnerID=8YFLogxK
U2 - 10.3233/JAD-180715
DO - 10.3233/JAD-180715
M3 - Article
C2 - 30714955
AN - SCOPUS:85061756896
VL - 67
SP - 985
EP - 993
JO - Journal of Alzheimer's Disease
JF - Journal of Alzheimer's Disease
SN - 1387-2877
IS - 3
ER -