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

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

2020

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

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:

clinical phenotype
Trinucleotide repeat expansion
Neuropsychology
Disease
Medicine
C9orf72
Pathology
Frontotemporal dementia
Genetic testing

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