scholarly journals Duration of life in the three common variants of primary progressive aphasia: A retrospective study in a tertiary memory clinic

2021 ◽  
Vol 17 (S6) ◽  
Author(s):  
Maud Tastevin ◽  
Monica Lavoie ◽  
Justine De La Sablonnière ◽  
Robert Laforce
Keyword(s):  
Retrospective Study ◽  
Primary Progressive Aphasia ◽  
Common Variants ◽  
Memory Clinic ◽  
Progressive Aphasia ◽  
Primary Progressive

scholarly journals C9orf72 Repeat Expansion Does Not Affect the Phenotype in Primary Progressive Aphasia

2020 ◽  
Vol 78 (3) ◽  
pp. 919-925
Author(s):  
Marjut Haapanen ◽  
Kasper Katisko ◽  
Tuomo Hänninen ◽  
Johanna Krüger ◽  
Päivi Hartikainen ◽  
...  
Keyword(s):  
Retrospective Study ◽  
Frontotemporal Lobar Degeneration ◽  
Primary Progressive Aphasia ◽  
Repeat Expansion ◽  
Speech And Language ◽  
C9orf72 Repeat Expansion ◽  
Progressive Aphasia ◽  
C9orf72 Expansion ◽  
Primary Progressive ◽  
C9orf72 Gene

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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