<em>C9orf72</em> repeat expansion does not affect the phenotype in primary progressive aphasia
Haapanen, Marjut; Katisko, Kasper; Hänninen, Tuomo; Krüger, Johanna; Hartikainen, Päivi; Haapasalo, Annakaisa; Remes, Anne M; Solje, Eino (2020-11-24)
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. https://doi.org/10.3233/JAD-200795
© 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 https://doi.org/10.3233/JAD-200795.
https://rightsstatements.org/vocab/InC/1.0/
https://urn.fi/URN:NBN:fi-fe202101192089
Tiivistelmä
Abstract
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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