Clinical and neuroimaging characterization of two C9orf72-positive siblings with amyotrophic lateral sclerosis and schizophrenia

Juan F. Vázquez-CostaNeuromuscular Research Unit, Instituto de Investigación Sanitaria la Fe (IIS La Fe), Valencia, ;Department of Neurology, Hospital Universitario y Politécnico La Fe, Valencia, ;Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Correspondence[email protected]

Eva BeltránLaboratory of Molecular Genetics, Institut de Biomedicina de València-CSIC, Valencia,

Pablo SopenaNuclear Medicine Department, Hospital Universitario y Politécnico La Fe, Valencia,

Ana SabaterDepartment of Psychiatry, Hospital Universitario y Politécnico La Fe, Valencia, and

Fernando CardonaLaboratory of Molecular Genetics, Institut de Biomedicina de València-CSIC, Valencia, ;Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), ;Unidad Mixta de Investigación en Neurología y Genética Molecular, Instituto de Investigación Sanitaria La Fe (IIS La Fe), Valencia,

Juan J. VilchezNeuromuscular Research Unit, Instituto de Investigación Sanitaria la Fe (IIS La Fe), Valencia, ;Department of Neurology, Hospital Universitario y Politécnico La Fe, Valencia, ;Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ;Department of Medicine, University of Valencia, Valencia, Spain

Jordi Pérez-TurLaboratory of Molecular Genetics, Institut de Biomedicina de València-CSIC, Valencia, ;Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), ;Unidad Mixta de Investigación en Neurología y Genética Molecular, Instituto de Investigación Sanitaria La Fe (IIS La Fe), Valencia,

Teresa SevillaNeuromuscular Research Unit, Instituto de Investigación Sanitaria la Fe (IIS La Fe), Valencia, ;Department of Neurology, Hospital Universitario y Politécnico La Fe, Valencia, ;Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ;Department of Medicine, University of Valencia, Valencia, Spain

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Acknowledgements

The authors thank the patients for having collaborated with this study. We are grateful to Itziar Llopis for sample management.

The research leading to these results has received funding from Instituto de Investigación Sanitaria La Fe (2013/0332, PI JFVC/ TS), from Instituto de Salud Carlos III (ISCIII, PI12/0946, PI TS) and from Ministerio de Economía y Competitividad (SAF2014-59469-R; PI: JPT). The Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) and the Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (CIBERNED) are initiatives from the ISCIII.

Declaration of interest

JFVC was funded by Instituto de Investigación La Fe. TS is funded by grants from the ISCIII and IRDiRC. JPT received support from Ministerio de Economía y Competitividad and CIBERNED.

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Clinical and neuroimaging characterization of two C9orf72-positive siblings with amyotrophic lateral sclerosis and schizophrenia

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Clinical and neuroimaging characterization of two C9orf72-positive siblings with amyotrophic lateral sclerosis and schizophrenia

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