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Neurology Genetics
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October 2017; 3 (5) ArticleOpen Access

Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease

Javier Ruiz-Martínez, Luis J. Azcona, Alberto Bergareche, Jose F. Martí-Massó, Coro Paisán-Ruiz
First published August 2, 2017, DOI: https://doi.org/10.1212/NXG.0000000000000177
Javier Ruiz-Martínez
From the Department of Neurology (J.R.-M., A.B., J.F.M.-M.), University Hospital Donostia, San Sebastián, Spain; Neurosciences Area, Biodonostia Research Institute (J.R.-M., A.B., J.F.M.-M.), San Sebastián, Spain; Center for Biomedical Research in Neurodegenerative Diseases Network (CIBERNED) (J.R.-M., A.B., J.F.M.-M.), Madrid, Spain; Department of Neuroscience (L.J.A.), Departments of Neurology, Psychiatry, and Genetics and Genomic Sciences (C.P.-R.), Friedman Brain and Mindich Child Health and Development Institutes (C.P.-R.), Icahn School of Medicine at Mount Sinai, New York, NY; and Department of Neuroscience (J.F.M.-M.), University of the Basque Country—UPV-EHU, San Sebastián, Spain.
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Luis J. Azcona
From the Department of Neurology (J.R.-M., A.B., J.F.M.-M.), University Hospital Donostia, San Sebastián, Spain; Neurosciences Area, Biodonostia Research Institute (J.R.-M., A.B., J.F.M.-M.), San Sebastián, Spain; Center for Biomedical Research in Neurodegenerative Diseases Network (CIBERNED) (J.R.-M., A.B., J.F.M.-M.), Madrid, Spain; Department of Neuroscience (L.J.A.), Departments of Neurology, Psychiatry, and Genetics and Genomic Sciences (C.P.-R.), Friedman Brain and Mindich Child Health and Development Institutes (C.P.-R.), Icahn School of Medicine at Mount Sinai, New York, NY; and Department of Neuroscience (J.F.M.-M.), University of the Basque Country—UPV-EHU, San Sebastián, Spain.
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Alberto Bergareche
From the Department of Neurology (J.R.-M., A.B., J.F.M.-M.), University Hospital Donostia, San Sebastián, Spain; Neurosciences Area, Biodonostia Research Institute (J.R.-M., A.B., J.F.M.-M.), San Sebastián, Spain; Center for Biomedical Research in Neurodegenerative Diseases Network (CIBERNED) (J.R.-M., A.B., J.F.M.-M.), Madrid, Spain; Department of Neuroscience (L.J.A.), Departments of Neurology, Psychiatry, and Genetics and Genomic Sciences (C.P.-R.), Friedman Brain and Mindich Child Health and Development Institutes (C.P.-R.), Icahn School of Medicine at Mount Sinai, New York, NY; and Department of Neuroscience (J.F.M.-M.), University of the Basque Country—UPV-EHU, San Sebastián, Spain.
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Jose F. Martí-Massó
From the Department of Neurology (J.R.-M., A.B., J.F.M.-M.), University Hospital Donostia, San Sebastián, Spain; Neurosciences Area, Biodonostia Research Institute (J.R.-M., A.B., J.F.M.-M.), San Sebastián, Spain; Center for Biomedical Research in Neurodegenerative Diseases Network (CIBERNED) (J.R.-M., A.B., J.F.M.-M.), Madrid, Spain; Department of Neuroscience (L.J.A.), Departments of Neurology, Psychiatry, and Genetics and Genomic Sciences (C.P.-R.), Friedman Brain and Mindich Child Health and Development Institutes (C.P.-R.), Icahn School of Medicine at Mount Sinai, New York, NY; and Department of Neuroscience (J.F.M.-M.), University of the Basque Country—UPV-EHU, San Sebastián, Spain.
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Coro Paisán-Ruiz
From the Department of Neurology (J.R.-M., A.B., J.F.M.-M.), University Hospital Donostia, San Sebastián, Spain; Neurosciences Area, Biodonostia Research Institute (J.R.-M., A.B., J.F.M.-M.), San Sebastián, Spain; Center for Biomedical Research in Neurodegenerative Diseases Network (CIBERNED) (J.R.-M., A.B., J.F.M.-M.), Madrid, Spain; Department of Neuroscience (L.J.A.), Departments of Neurology, Psychiatry, and Genetics and Genomic Sciences (C.P.-R.), Friedman Brain and Mindich Child Health and Development Institutes (C.P.-R.), Icahn School of Medicine at Mount Sinai, New York, NY; and Department of Neuroscience (J.F.M.-M.), University of the Basque Country—UPV-EHU, San Sebastián, Spain.
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Citation
Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease
Javier Ruiz-Martínez, Luis J. Azcona, Alberto Bergareche, Jose F. Martí-Massó, Coro Paisán-Ruiz
Neurol Genet Oct 2017, 3 (5) e177; DOI: 10.1212/NXG.0000000000000177

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    Figure CSMD1 mutations in Parkinson disease

    (A) Pedigree structures of 2 families with LOPD and CSMD1 mutations; family A is shown on the left side, whereas family B is shown on the right side. Wt/p.R1962H: heterozygous carriers for the CSMD1 p.R1962H mutation; Wt/p.G2987R: heterozygous carriers for the CSMD1 p.G2987R mutation; Wt/Wt: noncarriers. (B) Sanger chromatogram sequences for both CSMD1 mutations identified in this study are shown at the top, while conservation of both mutations across different species is shown at the bottom. The exact position of the mutations is highlighted with a red arrow. (C) CSMD1 encoding protein structure and the localization of both mutations identified in this study. LOPD = late-onset Parkinson disease.

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