C9ORF72 hexanucleotide repeat expansion with Alzheimer's disease-like clinical phenotype: A case report with results from neuropsychology, CSF, FDG-PET, and PiB-PET

Zuhal Filikci; Moa Anna Kristina Gustafsson; Otto Mølby Henriksen; Lisbeth Marner; Peter Høgh

doi:10.1002/ccr3.3417

C9ORF72 hexanucleotide repeat expansion with Alzheimer's disease-like clinical phenotype: A case report with results from neuropsychology, CSF, FDG-PET, and PiB-PET

Zuhal Filikci, Moa Anna Kristina Gustafsson, Otto Mølby Henriksen, Lisbeth Marner, Peter Høgh

3 Citations (Scopus)

Abstract

A thorough family history and relevant investigation program are essential to settle accurate diagnosis when clinical presentation is atypical or with a mixed picture.

Original language	English
Journal	Clinical Case Reports
Volume	8
Issue number	12
Pages (from-to)	3416-3420
Number of pages	5
ISSN	2050-0904
DOIs	https://doi.org/10.1002/ccr3.3417
Publication status	Published - Dec 2020

Keywords

Alzheimer's disease
C9Orf72 gene mutation
frontotemporal dementia
genetic testing

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10.1002/ccr3.3417

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C9ORF72 hexanucleotide repeat expansion with Alzheimer's disease-like clinical phenotype: A case report with results from neuropsychology, CSF, FDG-PET, and PiB-PET. / Filikci, Zuhal; Gustafsson, Moa Anna Kristina; Henriksen, Otto Mølby et al.
In: Clinical Case Reports, Vol. 8, No. 12, 12.2020, p. 3416-3420.

Research output: Contribution to journal › Journal article › Research › peer-review

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abstract = "A thorough family history and relevant investigation program are essential to settle accurate diagnosis when clinical presentation is atypical or with a mixed picture.",

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AU - Henriksen, Otto Mølby

AU - Marner, Lisbeth

AU - Høgh, Peter

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C9ORF72 hexanucleotide repeat expansion with Alzheimer's disease-like clinical phenotype: A case report with results from neuropsychology, CSF, FDG-PET, and PiB-PET

Abstract

Keywords

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