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C9ORF72 hexanucleotide repeat expansion with Alzheimer's disease-like clinical phenotype: A case report with results

Zuhal Filikci1, Moa Anna Kristina Gustafsson1, Otto Mølby Henriksen2

  • 1Department of Neurology Zealand University Hospital Roskilde Denmark.

Clinical Case Reports
|December 28, 2020
PubMed

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 diseaseC9Orf72 gene mutationfrontotemporal dementiagenetic testing

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