Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling

Paola Origone Department of Oncology, Biology and Genetics, University of Genoa and U.O. Medical Genetics of Azienda Ospedaliera, Universitaria S. Martino di Genova,

Claudia Caponnetto Department of Neuroscience, Ophthalmology and Genetics – Section of Neurology, University of Genoa and U.O. Neurology II of Azienda Ospedaliera, Universitaria S. Martino di Genova,

Monica Bandettini Di Poggio Department of Neuroscience, Ophthalmology and Genetics – Section of Neurology, University of Genoa and U.O. Neurology II of Azienda Ospedaliera, Universitaria S. Martino di Genova,

Elisabetta Ghiglione U.O. Neurologia, Alessandria, ASL

Emilia Bellone Department of Neuroscience, Ophthalmology and Genetics – Section of Medical Genetics, University of Genoa and U.O. Medical Genetics of Azienda Ospedaliera, Universitaria S. Martino di Genova,

Giovanna Ferrandes U.O. Clinical Psychology of Azienda Ospedaliera, Universitaria S. Martino di Genova,

Giovanni Luigi Mancardi Department of Neuroscience, Ophthalmology and Genetics – Section of Neurology, University of Genoa and U.O. Neurology II of Azienda Ospedaliera, Universitaria S. Martino di Genova,

Paola Mandich Department of Neuroscience, Ophthalmology and Genetics – Section of Medical Genetics, University of Genoa and U.O. Medical Genetics of Azienda Ospedaliera, Universitaria S. Martino di Genova,Correspondence[email protected]

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Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling

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Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counselling

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