Abstract summary 

We describe a Tunisian family carrier of the same rare mutation in but developing different neurodegenerative disease with heterogenous features. We explored the possible genetic modifiers leading to the observed intrafamilial phenotypic variability. Genetic analysis identified p.G294A mutation among4 members. Additionally, the ALS case was muted in . While the three cases of AD were carriers of and mutations. Finally, the FTD-parkinsonism patient was mutated for p.G2019S that might increase his susceptibility to develop Parkinsonism spectrum. Genetic variants of may influence the clinical manifestation in ALS case.

Authors & Co-authors:  Kacem Imen I Sghaier Ikram I Ticozzi Nicola N Mrabet Saloua S Paverelli Silvia S Nasri Amina A Ratti Antonia A Ben Djebara Mouna M Gargouri-Berrachid Amina A Silani Vincenzo V Gouider Riadh R

Study Outcome 

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