title: Phenotypic variability related to C9orf72 mutation in a large Sardinian kindred.
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.
authors.affiliation: a Department of Neurology , Azienda Universitaria-Ospedaliera of Cagliari and University of Cagliari , Cagliari .
authors.forename: Gianluca
authors.initials: G
authors.lastname: Floris
authors.affiliation: a Department of Neurology , Azienda Universitaria-Ospedaliera of Cagliari and University of Cagliari , Cagliari .
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Borghero
authors.affiliation: a Department of Neurology , Azienda Universitaria-Ospedaliera of Cagliari and University of Cagliari , Cagliari .
authors.forename: Francesca
authors.initials: F
authors.lastname: Di Stefano
authors.affiliation: a Department of Neurology , Azienda Universitaria-Ospedaliera of Cagliari and University of Cagliari , Cagliari .
authors.forename: Rosanna
authors.initials: R
authors.lastname: Melis
authors.affiliation: a Department of Neurology , Azienda Universitaria-Ospedaliera of Cagliari and University of Cagliari , Cagliari .
authors.forename: Roberta
authors.initials: R
authors.lastname: Puddu
authors.affiliation: a Department of Neurology , Azienda Universitaria-Ospedaliera of Cagliari and University of Cagliari , Cagliari .
authors.forename: Laura
authors.initials: L
authors.lastname: Fadda
authors.affiliation: b Multiple Sclerosis Centre Laboratory , University of Cagliari , Cagliari , and.
authors.forename: Maria R
authors.initials: MR
authors.lastname: Murru
authors.affiliation: b Multiple Sclerosis Centre Laboratory , University of Cagliari , Cagliari , and.
authors.forename: Daniela
authors.initials: D
authors.lastname: Corongiu
authors.affiliation: b Multiple Sclerosis Centre Laboratory , University of Cagliari , Cagliari , and.
authors.forename: Stefania
authors.initials: S
authors.lastname: Cuccu
authors.affiliation: b Multiple Sclerosis Centre Laboratory , University of Cagliari , Cagliari , and.
authors.forename: Stefania
authors.initials: S
authors.lastname: Tranquilli
authors.affiliation: a Department of Neurology , Azienda Universitaria-Ospedaliera of Cagliari and University of Cagliari , Cagliari .
authors.forename: Antonino
authors.initials: A
authors.lastname: Cannas
authors.affiliation: b Multiple Sclerosis Centre Laboratory , University of Cagliari , Cagliari , and.
authors.forename: Maria G
authors.initials: MG
authors.lastname: Marrosu
authors.affiliation: c ALS Centre, 'Rita Levi Montalcini' Department of Neuroscience , University of Torino, AOU Città della Salute e della Scienza, Torino, and Neuroscience Institute of Torino (NIT) , Torino , Italy.
authors.forename: Adriano
authors.initials: A
authors.lastname: Chiò
authors.affiliation: a Department of Neurology , Azienda Universitaria-Ospedaliera of Cagliari and University of Cagliari , Cagliari .
authors.forename: Francesco
authors.initials: F
authors.lastname: Marrosu
mesh_terms: D000368:Aged; D000690:Amyotrophic Lateral Sclerosis / Q000000981:diagnostic imaging / Q000235:genetics*; D000067698:Ataxin-2 / Q000235:genetics; D000073885:C9orf72 Protein; D015331:Cohort Studies; D005192:Family Health; D005260:Female; D057180:Frontotemporal Dementia / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000209:etiology; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D016875:tau Proteins / Q000235:genetics
chemical_list: C000593752:ATXN2 protein, human; D000067698:Ataxin-2; D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; C054369:MAPT protein, human; D011506:Proteins; D016875:tau Proteins
keywords: ALS; C9orf72; FTD; Parkinsonism; phenotype variability