Phenotypic variability related to C9orf72 mutation in a large Sardinian kindred. Issue 3 (18th May 2016)

• Record Type: Journal Article
• Authors: 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
• Is Part Of: Amyotrophic lateral sclerosis and frontotemporal degeneration. Volume 17:Issue 3/4(2016)
• Page Start: 245
• Page End: 248
• Publication Date: 2016-05-18
• Subjects: FTD -- ALS -- C9orf72 -- phenotype variability -- Parkinsonism; 616.839
• DOI: 10.3109/21678421.2015.1111904
• Languages: English
• ISSNs: 2167-8421

Abstract

Abstract: 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.