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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  PRKN  and  GBA  mutations. Finally, the FTD-parkinsonism patient was mutated for  LRRK2  p.G2019S that might increase his susceptibility to develop Parkinsonism spectrum. Genetic variants of  TARDBP  may influence the clinical manifestation in ALS case.

Expanding the phenotype of TARDBP mutation in a Tunisian family with clinical phenotype heterogeneity