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February 2021; 7 (1) ArticleOpen Access

Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease

Maria del Mar Amador, Marcela Gargiulo, Christilla Boucher, Ariane Herson, Stéphanie Staraci, François Salachas, Fabienne Clot, Cécile Cazeneuve, Isabelle Le Ber, Alexandra Durr
First published December 24, 2020, DOI: https://doi.org/10.1212/NXG.0000000000000538
Maria del Mar Amador
From the Maria del Mar Amador, Département de Neurologie (M.d.M.A., F.S.), Centre de Référence SLA de Paris, Assistance Publique–Hôpitaux de Paris, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France; Département de Génétique (M.d.M.A., M.G., C.B., A.H., S.S., A.D.), Assistance Publique–Hôpitaux de Paris, Sorbonne Université, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France; Laboratory of Clinical Psychology (M.G.), Psychopathology and Psychoanalysis PCPP, EA 4056, University Paris Descartes, Sorbonne Paris City, Psychology Institute, Boulogne-Billancourt, France; Département de Génétique (F.C., C.C.), UF de Neurogénétique, Assistance Publique–Hôpitaux de Paris, Sorbonne Université Hospital Pitié-Salpêtrière; Centre de Référence des Démences Rares ou Précoces (I.L.B.), IM2A, Département de Neurologie, Assistance Publique–Hôpitaux de Paris, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France; and Sorbonne Université, Institut du Cerveau et de la Moelle épinière (ICM) (I.L.B., A.D.), Assistance Publique–Hôpitaux de Paris, INSERM, CNRS, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France.
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Marcela Gargiulo
From the Maria del Mar Amador, Département de Neurologie (M.d.M.A., F.S.), Centre de Référence SLA de Paris, Assistance Publique–Hôpitaux de Paris, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France; Département de Génétique (M.d.M.A., M.G., C.B., A.H., S.S., A.D.), Assistance Publique–Hôpitaux de Paris, Sorbonne Université, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France; Laboratory of Clinical Psychology (M.G.), Psychopathology and Psychoanalysis PCPP, EA 4056, University Paris Descartes, Sorbonne Paris City, Psychology Institute, Boulogne-Billancourt, France; Département de Génétique (F.C., C.C.), UF de Neurogénétique, Assistance Publique–Hôpitaux de Paris, Sorbonne Université Hospital Pitié-Salpêtrière; Centre de Référence des Démences Rares ou Précoces (I.L.B.), IM2A, Département de Neurologie, Assistance Publique–Hôpitaux de Paris, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France; and Sorbonne Université, Institut du Cerveau et de la Moelle épinière (ICM) (I.L.B., A.D.), Assistance Publique–Hôpitaux de Paris, INSERM, CNRS, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France.
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Christilla Boucher
From the Maria del Mar Amador, Département de Neurologie (M.d.M.A., F.S.), Centre de Référence SLA de Paris, Assistance Publique–Hôpitaux de Paris, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France; Département de Génétique (M.d.M.A., M.G., C.B., A.H., S.S., A.D.), Assistance Publique–Hôpitaux de Paris, Sorbonne Université, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France; Laboratory of Clinical Psychology (M.G.), Psychopathology and Psychoanalysis PCPP, EA 4056, University Paris Descartes, Sorbonne Paris City, Psychology Institute, Boulogne-Billancourt, France; Département de Génétique (F.C., C.C.), UF de Neurogénétique, Assistance Publique–Hôpitaux de Paris, Sorbonne Université Hospital Pitié-Salpêtrière; Centre de Référence des Démences Rares ou Précoces (I.L.B.), IM2A, Département de Neurologie, Assistance Publique–Hôpitaux de Paris, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France; and Sorbonne Université, Institut du Cerveau et de la Moelle épinière (ICM) (I.L.B., A.D.), Assistance Publique–Hôpitaux de Paris, INSERM, CNRS, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France.
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Ariane Herson
From the Maria del Mar Amador, Département de Neurologie (M.d.M.A., F.S.), Centre de Référence SLA de Paris, Assistance Publique–Hôpitaux de Paris, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France; Département de Génétique (M.d.M.A., M.G., C.B., A.H., S.S., A.D.), Assistance Publique–Hôpitaux de Paris, Sorbonne Université, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France; Laboratory of Clinical Psychology (M.G.), Psychopathology and Psychoanalysis PCPP, EA 4056, University Paris Descartes, Sorbonne Paris City, Psychology Institute, Boulogne-Billancourt, France; Département de Génétique (F.C., C.C.), UF de Neurogénétique, Assistance Publique–Hôpitaux de Paris, Sorbonne Université Hospital Pitié-Salpêtrière; Centre de Référence des Démences Rares ou Précoces (I.L.B.), IM2A, Département de Neurologie, Assistance Publique–Hôpitaux de Paris, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France; and Sorbonne Université, Institut du Cerveau et de la Moelle épinière (ICM) (I.L.B., A.D.), Assistance Publique–Hôpitaux de Paris, INSERM, CNRS, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France.
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Stéphanie Staraci
From the Maria del Mar Amador, Département de Neurologie (M.d.M.A., F.S.), Centre de Référence SLA de Paris, Assistance Publique–Hôpitaux de Paris, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France; Département de Génétique (M.d.M.A., M.G., C.B., A.H., S.S., A.D.), Assistance Publique–Hôpitaux de Paris, Sorbonne Université, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France; Laboratory of Clinical Psychology (M.G.), Psychopathology and Psychoanalysis PCPP, EA 4056, University Paris Descartes, Sorbonne Paris City, Psychology Institute, Boulogne-Billancourt, France; Département de Génétique (F.C., C.C.), UF de Neurogénétique, Assistance Publique–Hôpitaux de Paris, Sorbonne Université Hospital Pitié-Salpêtrière; Centre de Référence des Démences Rares ou Précoces (I.L.B.), IM2A, Département de Neurologie, Assistance Publique–Hôpitaux de Paris, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France; and Sorbonne Université, Institut du Cerveau et de la Moelle épinière (ICM) (I.L.B., A.D.), Assistance Publique–Hôpitaux de Paris, INSERM, CNRS, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France.
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François Salachas
From the Maria del Mar Amador, Département de Neurologie (M.d.M.A., F.S.), Centre de Référence SLA de Paris, Assistance Publique–Hôpitaux de Paris, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France; Département de Génétique (M.d.M.A., M.G., C.B., A.H., S.S., A.D.), Assistance Publique–Hôpitaux de Paris, Sorbonne Université, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France; Laboratory of Clinical Psychology (M.G.), Psychopathology and Psychoanalysis PCPP, EA 4056, University Paris Descartes, Sorbonne Paris City, Psychology Institute, Boulogne-Billancourt, France; Département de Génétique (F.C., C.C.), UF de Neurogénétique, Assistance Publique–Hôpitaux de Paris, Sorbonne Université Hospital Pitié-Salpêtrière; Centre de Référence des Démences Rares ou Précoces (I.L.B.), IM2A, Département de Neurologie, Assistance Publique–Hôpitaux de Paris, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France; and Sorbonne Université, Institut du Cerveau et de la Moelle épinière (ICM) (I.L.B., A.D.), Assistance Publique–Hôpitaux de Paris, INSERM, CNRS, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France.
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Fabienne Clot
From the Maria del Mar Amador, Département de Neurologie (M.d.M.A., F.S.), Centre de Référence SLA de Paris, Assistance Publique–Hôpitaux de Paris, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France; Département de Génétique (M.d.M.A., M.G., C.B., A.H., S.S., A.D.), Assistance Publique–Hôpitaux de Paris, Sorbonne Université, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France; Laboratory of Clinical Psychology (M.G.), Psychopathology and Psychoanalysis PCPP, EA 4056, University Paris Descartes, Sorbonne Paris City, Psychology Institute, Boulogne-Billancourt, France; Département de Génétique (F.C., C.C.), UF de Neurogénétique, Assistance Publique–Hôpitaux de Paris, Sorbonne Université Hospital Pitié-Salpêtrière; Centre de Référence des Démences Rares ou Précoces (I.L.B.), IM2A, Département de Neurologie, Assistance Publique–Hôpitaux de Paris, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France; and Sorbonne Université, Institut du Cerveau et de la Moelle épinière (ICM) (I.L.B., A.D.), Assistance Publique–Hôpitaux de Paris, INSERM, CNRS, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France.
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Cécile Cazeneuve
From the Maria del Mar Amador, Département de Neurologie (M.d.M.A., F.S.), Centre de Référence SLA de Paris, Assistance Publique–Hôpitaux de Paris, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France; Département de Génétique (M.d.M.A., M.G., C.B., A.H., S.S., A.D.), Assistance Publique–Hôpitaux de Paris, Sorbonne Université, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France; Laboratory of Clinical Psychology (M.G.), Psychopathology and Psychoanalysis PCPP, EA 4056, University Paris Descartes, Sorbonne Paris City, Psychology Institute, Boulogne-Billancourt, France; Département de Génétique (F.C., C.C.), UF de Neurogénétique, Assistance Publique–Hôpitaux de Paris, Sorbonne Université Hospital Pitié-Salpêtrière; Centre de Référence des Démences Rares ou Précoces (I.L.B.), IM2A, Département de Neurologie, Assistance Publique–Hôpitaux de Paris, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France; and Sorbonne Université, Institut du Cerveau et de la Moelle épinière (ICM) (I.L.B., A.D.), Assistance Publique–Hôpitaux de Paris, INSERM, CNRS, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France.
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Isabelle Le Ber
From the Maria del Mar Amador, Département de Neurologie (M.d.M.A., F.S.), Centre de Référence SLA de Paris, Assistance Publique–Hôpitaux de Paris, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France; Département de Génétique (M.d.M.A., M.G., C.B., A.H., S.S., A.D.), Assistance Publique–Hôpitaux de Paris, Sorbonne Université, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France; Laboratory of Clinical Psychology (M.G.), Psychopathology and Psychoanalysis PCPP, EA 4056, University Paris Descartes, Sorbonne Paris City, Psychology Institute, Boulogne-Billancourt, France; Département de Génétique (F.C., C.C.), UF de Neurogénétique, Assistance Publique–Hôpitaux de Paris, Sorbonne Université Hospital Pitié-Salpêtrière; Centre de Référence des Démences Rares ou Précoces (I.L.B.), IM2A, Département de Neurologie, Assistance Publique–Hôpitaux de Paris, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France; and Sorbonne Université, Institut du Cerveau et de la Moelle épinière (ICM) (I.L.B., A.D.), Assistance Publique–Hôpitaux de Paris, INSERM, CNRS, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France.
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Alexandra Durr
From the Maria del Mar Amador, Département de Neurologie (M.d.M.A., F.S.), Centre de Référence SLA de Paris, Assistance Publique–Hôpitaux de Paris, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France; Département de Génétique (M.d.M.A., M.G., C.B., A.H., S.S., A.D.), Assistance Publique–Hôpitaux de Paris, Sorbonne Université, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France; Laboratory of Clinical Psychology (M.G.), Psychopathology and Psychoanalysis PCPP, EA 4056, University Paris Descartes, Sorbonne Paris City, Psychology Institute, Boulogne-Billancourt, France; Département de Génétique (F.C., C.C.), UF de Neurogénétique, Assistance Publique–Hôpitaux de Paris, Sorbonne Université Hospital Pitié-Salpêtrière; Centre de Référence des Démences Rares ou Précoces (I.L.B.), IM2A, Département de Neurologie, Assistance Publique–Hôpitaux de Paris, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France; and Sorbonne Université, Institut du Cerveau et de la Moelle épinière (ICM) (I.L.B., A.D.), Assistance Publique–Hôpitaux de Paris, INSERM, CNRS, Sorbonne Université Hospital Pitié-Salpêtrière, Paris, France.
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Citation
Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease
Maria del Mar Amador, Marcela Gargiulo, Christilla Boucher, Ariane Herson, Stéphanie Staraci, François Salachas, Fabienne Clot, Cécile Cazeneuve, Isabelle Le Ber, Alexandra Durr
Neurol Genet Feb 2021, 7 (1) e538; DOI: 10.1212/NXG.0000000000000538

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    Figure Proportion of Testees Consulting for Presymptomatic Testing for ALS/FTD and HD

    Proportion of testees consulting for presymptomatic testing for ALS/FTD (green) and HD (gray) in a national reference center for rare diseases of the Salpêtrière University Hospital between January 2008 and June 2019. The left bars (light green and light gray) represent the incoming requests, and the dark green and gray bars the disclosures after PT procedures. There was an increasing demand for testing for ALS/FTD and a decreasing demand for HD, explained by more widespread offers for testing throughout the country. The proportion of test disclosures was similar for both disease groups, 24% and 35%, respectively. ALS/FTD = amyotrophic lateral sclerosis and/or frontotemporal dementia; HD = Huntington disease.

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