C9ORF72 hexanucleotide repeat expansion with Alzheimer's disease-like clinical phenotype: A case report with results from neuropsychology, CSF, FDG-PET, and PiB-PET
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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
Final published version, 382 KB, PDF document
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 |
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Journal | Clinical Case Reports |
Volume | 8 |
Issue number | 12 |
Pages (from-to) | 3416-3420 |
ISSN | 2050-0904 |
DOIs | |
Publication status | Published - 2020 |
- Alzheimer's disease, C9Orf72 gene mutation, frontotemporal dementia, genetic testing
Research areas
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ID: 251943483