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.
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Wiley
2020-12-01
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| Series: | Clinical Case Reports |
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| Online Access: | https://doi.org/10.1002/ccr3.3417 |
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doaj-51e585dd8ac949b3ab0432e1011bd8022021-08-02T06:23:39ZengWileyClinical Case Reports2050-09042020-12-018123415341910.1002/ccr3.3417C9ORF72 hexanucleotide repeat expansion with Alzheimer's disease‐like clinical phenotype: A case report with results from neuropsychology, CSF, FDG‐PET, and PiB‐PETZuhal Filikci0Moa Anna Kristina Gustafsson1Otto Mølby Henriksen2Lisbeth Marner3Peter Høgh4Department of Neurology Zealand University Hospital Roskilde DenmarkDepartment of Neurology Zealand University Hospital Roskilde DenmarkDepartment of Clinical Physiology, Nuclear Medicine and PET Copenhagen University Hospital Rigshospitalet Copenhagen DenmarkDepartment of Clinical Physiology and Nuclear Medicine Copenhagen University Hospital Bispebjerg Copenhagen DenmarkDepartment of Neurology Zealand University Hospital Roskilde DenmarkAbstract A thorough family history and relevant investigation program are essential to settle accurate diagnosis when clinical presentation is atypical or with a mixed picture.https://doi.org/10.1002/ccr3.3417Alzheimer's diseaseC9Orf72 gene mutationfrontotemporal dementiagenetic testing |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Zuhal Filikci Moa Anna Kristina Gustafsson Otto Mølby Henriksen Lisbeth Marner Peter Høgh |
| spellingShingle |
Zuhal Filikci Moa Anna Kristina Gustafsson Otto Mølby Henriksen Lisbeth Marner Peter Høgh C9ORF72 hexanucleotide repeat expansion with Alzheimer's disease‐like clinical phenotype: A case report with results from neuropsychology, CSF, FDG‐PET, and PiB‐PET Clinical Case Reports Alzheimer's disease C9Orf72 gene mutation frontotemporal dementia genetic testing |
| author_facet |
Zuhal Filikci Moa Anna Kristina Gustafsson Otto Mølby Henriksen Lisbeth Marner Peter Høgh |
| author_sort |
Zuhal Filikci |
| 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 |
| title_short |
C9ORF72 hexanucleotide repeat expansion with Alzheimer's disease‐like clinical phenotype: A case report with results from neuropsychology, CSF, FDG‐PET, and PiB‐PET |
| title_full |
C9ORF72 hexanucleotide repeat expansion with Alzheimer's disease‐like clinical phenotype: A case report with results from neuropsychology, CSF, FDG‐PET, and PiB‐PET |
| title_fullStr |
C9ORF72 hexanucleotide repeat expansion with Alzheimer's disease‐like clinical phenotype: A case report with results from neuropsychology, CSF, FDG‐PET, and PiB‐PET |
| title_full_unstemmed |
C9ORF72 hexanucleotide repeat expansion with Alzheimer's disease‐like clinical phenotype: A case report with results from neuropsychology, CSF, FDG‐PET, and PiB‐PET |
| title_sort |
c9orf72 hexanucleotide repeat expansion with alzheimer's disease‐like clinical phenotype: a case report with results from neuropsychology, csf, fdg‐pet, and pib‐pet |
| publisher |
Wiley |
| series |
Clinical Case Reports |
| issn |
2050-0904 |
| publishDate |
2020-12-01 |
| description |
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. |
| topic |
Alzheimer's disease C9Orf72 gene mutation frontotemporal dementia genetic testing |
| url |
https://doi.org/10.1002/ccr3.3417 |
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