Article
Expanding the phenotype of TARDBP mutation in a Tunisian family with clinical phenotype heterogeneity.
Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Nov 2022
Kacem Imen, Sghaier Ikram, Ticozzi Nicola, Mrabet Saloua, Paverelli Silvia, Nasri Amina, Ratti Antonia, Ben Djebara Mouna, Gargouri-Berrachid Amina, Silani Vincenzo, Gouider Riadh
Abstract excerpt
We describe a Tunisian family carrier of the same rare mutation in TARDBP but developing different neurodegenerative disease with heterogenous features. We explored the possible genetic modifiers leading to the observed intrafamilial phenotypic variability. Genetic analysis identified TARDBP p.G294A mutation among4 members. Additionally, the ALS case was muted in GBA. While the three cases of AD were carriers of...
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