University of Oulu

Haapanen, M., Katisko, K., Hänninen, T., Krüger, J., Hartikainen, P., Haapasalo, A., Remes, A. M., & Solje, E. (2020). C9orf72 Repeat Expansion Does Not Affect the Phenotype in Primary Progressive Aphasia [JB]. Journal of Alzheimer’s Disease, 78(3), 919–925.

C9orf72 repeat expansion does not affect the phenotype in primary progressive aphasia

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Author: Haapanen, Marjut1; Katisko, Kasper1; Hänninen, Tuomo2;
Organizations: 1Institute of Clinical Medicine - Neurology, University of Eastern Finland, Kuopio, Finland
2Neuro Center, Neurology, Kuopio University Hospital, Kuopio, Finland
3Research Unit of Clinical Neuroscience, Neurology, University of Oulu, Oulu, Finland
4MRC, Oulu University Hospital, Oulu, Finland
5A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland
Format: article
Version: accepted version
Access: open
Online Access: PDF Full Text (PDF, 0.3 MB)
Persistent link:
Language: English
Published: IOS Press, 2020
Publish Date: 2021-01-19


Primary progressive aphasia (PPA) forms the spectrum of language variants of frontotemporal lobar degeneration (FTLD), including three subtypes each consisting of distinctive speech and language features. Repeat expansion in C9orf72 gene is the most common genetic cause of FTLD. However, thus far only little is known about the effects of the C9orf72 repeat expansion on the phenotype of PPA. This retrospective study aimed at determining the differences between the PPA phenotypes of the C9orf72 expansion carriers and non-carriers. Our results demonstrated no significant differences between these groups, indicating that the C9orf72 repeat expansion does not substantially affect the phenotype of PPA.

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Series: Journal of Alzheimer's disease
ISSN: 1387-2877
ISSN-E: 1875-8908
ISSN-L: 1387-2877
Volume: 78
Issue: 3
Pages: 919 - 925
DOI: 10.3233/JAD-200795
Type of Publication: A1 Journal article – refereed
Field of Science: 3124 Neurology and psychiatry
Funding: This project was supported by Finnish Medical Foundation, Finnish Cultural Foundation, Maire Taponen Foundation, Maud Kuistila Memorial Foundation, Olvi-Foundation, The University of Oulu Scholarship Foundation and Academy of Finland (no. 315459 and 315460). This study is part of the FinFTD network research activities.
Academy of Finland Grant Number: 315460
Detailed Information: 315460 (Academy of Finland Funding decision)
Copyright information: © IOS Publishing. This is the pre-copyedited, author-produced version of an article accepted for publication in Journal of Alzheimer's Disease following peer review. The definitive Version of Record can be found online at