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 Citationer (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.

Originalsprog	Engelsk
Tidsskrift	Clinical Case Reports
Vol/bind	8
Udgave nummer	12
Sider (fra-til)	3416-3420
Antal sider	5
ISSN	2050-0904
DOI	https://doi.org/10.1002/ccr3.3417
Status	Udgivet - dec. 2020

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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.
I: Clinical Case Reports, Bind 8, Nr. 12, 12.2020, s. 3416-3420.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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

keywords = "Alzheimer's disease, C9Orf72 gene mutation, frontotemporal dementia, genetic testing",

author = "Zuhal Filikci and Gustafsson, \{Moa Anna Kristina\} and Henriksen, \{Otto M{\o}lby\} and Lisbeth Marner and Peter H{\o}gh",

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AU - Gustafsson, Moa Anna Kristina

AU - Henriksen, Otto Mølby

AU - Marner, Lisbeth

AU - Høgh, Peter

PY - 2020/12

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N2 - 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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KW - Alzheimer's disease

KW - C9Orf72 gene mutation

KW - frontotemporal dementia

KW - genetic testing

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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

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