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

Clin Case Rep. 2020 Oct 27;8(12):3416-3420. doi: 10.1002/ccr3.3417. eCollection 2020 Dec.

Authors

Zuhal Filikci¹, Moa Anna Kristina Gustafsson¹, Otto Mølby Henriksen², Lisbeth Marner³, Peter Høgh^{1

4}

Affiliations

¹ Department of Neurology Zealand University Hospital Roskilde Denmark.
² Department of Clinical Physiology, Nuclear Medicine and PET Copenhagen University Hospital Rigshospitalet Copenhagen Denmark.
³ Department of Clinical Physiology and Nuclear Medicine Copenhagen University Hospital Bispebjerg Copenhagen Denmark.
⁴ Department of Clinical Medicine University of Copenhagen Copenhagen Denmark.

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.

Publication types

Case Reports