Phenotypic variability related to C9orf72 mutation in a large Sardinian kindred

Gianluca FlorisDepartment of Neurology, Azienda Universitaria-Ospedaliera of Cagliari and University of Cagliari, Cagliari, Correspondence[email protected]

Giuseppe BorgheroDepartment of Neurology, Azienda Universitaria-Ospedaliera of Cagliari and University of Cagliari, Cagliari,

Francesca Di StefanoDepartment of Neurology, Azienda Universitaria-Ospedaliera of Cagliari and University of Cagliari, Cagliari,

Rosanna MelisDepartment of Neurology, Azienda Universitaria-Ospedaliera of Cagliari and University of Cagliari, Cagliari,

Roberta PudduDepartment of Neurology, Azienda Universitaria-Ospedaliera of Cagliari and University of Cagliari, Cagliari,

Laura FaddaDepartment of Neurology, Azienda Universitaria-Ospedaliera of Cagliari and University of Cagliari, Cagliari,

Maria R. MurruMultiple Sclerosis Centre Laboratory, University of Cagliari, Cagliari, and

Daniela CorongiuMultiple Sclerosis Centre Laboratory, University of Cagliari, Cagliari, and

Stefania CuccuMultiple Sclerosis Centre Laboratory, University of Cagliari, Cagliari, and

Stefania TranquilliMultiple Sclerosis Centre Laboratory, University of Cagliari, Cagliari, and

Antonino CannasDepartment of Neurology, Azienda Universitaria-Ospedaliera of Cagliari and University of Cagliari, Cagliari,

Maria G. MarrosuMultiple Sclerosis Centre Laboratory, University of Cagliari, Cagliari, and

Adriano ChiòALS 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

Francesco MarrosuDepartment of Neurology, Azienda Universitaria-Ospedaliera of Cagliari and University of Cagliari, Cagliari,

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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.

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Phenotypic variability related to C9orf72 mutation in a large Sardinian kindred

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