Neurology Department, LR18SP03, Razi Universitary Hospital, Tunis, Tunisia.
Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.
Amyotroph Lateral Scler Frontotemporal Degener. 2022 Nov;23(7-8):623-626. doi: 10.1080/21678421.2022.2089856. Epub 2022 Jul 5.
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.
我们描述了一个突尼斯家族，该家族携带 中的相同罕见突变，但患有具有异质特征的不同神经退行性疾病。我们探讨了可能导致观察到的家族内表型变异性的遗传修饰因子。遗传分析在 4 名成员中发现了 p.G294A 突变。此外，ALS 病例在 中沉默。而 3 例 AD 是 和 突变的携带者。最后，FTD-帕金森病患者发生了 p.G2019S 的 突变，这可能增加了他患帕金森病谱的易感性。在 ALS 病例中， 基因的变异可能影响临床表现。
