Floris Gianluca, Borghero Giuseppe, Di Stefano Francesca, Melis Rosanna, Puddu Roberta, Fadda Laura, Murru Maria R, Corongiu Daniela, Cuccu Stefania, Tranquilli Stefania, Cannas Antonino, Marrosu Maria G, Chiò Adriano, Marrosu Francesco
a Department of Neurology , Azienda Universitaria-Ospedaliera of Cagliari and University of Cagliari , Cagliari .
b Multiple Sclerosis Centre Laboratory , University of Cagliari , Cagliari , and.
Amyotroph Lateral Scler Frontotemporal Degener. 2016;17(3-4):245-8. doi: 10.3109/21678421.2015.1111904. Epub 2015 Nov 17.
We investigated intrafamilial phenotypic variability in carriers of the C9orf72 mutation, analysing clinical, neuropsychological and imaging characteristics of various members from a large Sardinian kindred with FTD or ALS. We compared these with those of C9 + patients in our ALS and FTD cohorts. Results showed that three patients carried the C9orf72 mutation: two with ALS and one with FTD and Parkinsonism. C9 + patients in our bvFTD Sardinian cohort had a higher frequency of Parkinsonism than non-mutated patients (75% vs. 36.3%, p <0.02). Parkinsonism was present in 2.7% of our ALS cohort and 3.3% of the C9 + patients. The prevalence of Parkinsonism in C9 + patients in the bvFTD and ALS cohorts showed a statistically significant difference (p <0.006). In conclusion, Parkinsonism was frequently associated with FTD but not ALS in a large Sardinian family, a finding reflected in the wider C9orf72 associated Sardinian ALS and FTD populations.
我们研究了C9orf72突变携带者的家族内表型变异性，分析了来自一个患有额颞叶痴呆（FTD）或肌萎缩侧索硬化症（ALS）的大型撒丁岛家族中不同成员的临床、神经心理学和影像学特征。我们将这些特征与我们的ALS和FTD队列中的C9 +患者的特征进行了比较。结果显示，三名患者携带C9orf72突变：两名患有ALS，一名患有FTD和帕金森综合征。在我们的bvFTD撒丁岛队列中，C9 +患者帕金森综合征的发生率高于未突变患者（75%对36.3%，p <0.02）。帕金森综合征在我们的ALS队列中占2.7%，在C9 +患者中占3.3%。bvFTD和ALS队列中C9 +患者帕金森综合征的患病率显示出统计学上的显著差异（p <0.006）。总之，在一个大型撒丁岛家族中，帕金森综合征常与FTD相关，但与ALS无关，这一发现也反映在更广泛的与C9orf72相关的撒丁岛ALS和FTD人群中。
