The importance of offering early genetic testing in everyone with amyotrophic lateral sclerosis

被引：28
|
作者：
Salmon, Kristiana [1 ]
Kiernan, Matthew C. [2 ,3 ]
Kim, Seung H. [4 ]
Andersen, Peter M. [5 ]
Chio, Adriano [6 ,7 ]
van den Berg, Leonard H. [8 ]
Van Damme, Philip [9 ,10 ,11 ]
Al-Chalabi, Ammar [12 ]
Lillo, Patricia [13 ,14 ]
Andrews, Jinsy A. [15 ]
Genge, Angela [1 ]
机构：
[1] McGill Univ, Montreal Neurol Inst Hosp, Dept Neurol & Neurosurg, Montreal, PQ, Canada
[2] Univ Sydney, Brain & Mind Ctr, Sydney, NSW, Australia
[3] Royal Prince Alfred Hosp, Dept Neurol, Sydney, NSW, Australia
[4] Hanyang Univ, Coll Med, Dept Neurol, Seoul, South Korea
[5] Umea Univ, Dept Clin Sci, Neurosci, Umea, Sweden
[6] Univ Torino, ALS Ctr, Dept Neurosci Rita Levi Montalcini, Turin, Italy
[7] AOU Citta Salute & Sci Torino, SC Neurol 1U, Turin, Italy
[8] Univ Med Ctr Utrecht, UMC Utrecht Brain Ctr, Dept Neurol, Utrecht, Netherlands
[9] Katholieke Univ Leuven, Dept Neurosci, Lab Neurobiol, Leuven, Belgium
[10] Leuven Brain Inst, VIB, Ctr Brain & Dis Res, Leuven, Belgium
[11] Univ Hosp Leuven, Dept Neurol, Leuven, Belgium
[12] Kings Coll London, Maurice Wohl Clin Neurosci Inst, Dept Basic & Clin Neurosci, London, England
[13] Univ Chile, Fac Med, Dept Neurol Sur, Santiago, Chile
[14] Gerosci Ctr Brain Hlth & Metab, Santiago, Chile
[15] Eleanor & Lou Gehrig ALS Ctr, Neurol Inst, New York, NY USA
来源：
BRAIN | 2022年 / 145卷 / 04期
基金：
英国经济与社会研究理事会; 澳大利亚国家健康与医学研究理事会; 英国医学研究理事会;
关键词：
HEXANUCLEOTIDE REPEAT; ALS; C9ORF72; MANAGEMENT; THERAPIES; RISK;
D O I：
10.1093/brain/awab472
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：1207 / 1210
页数：4
相关论文
共 50 条
  • [1] Genetic testing for amyotrophic lateral sclerosis in Canada - an assessment of current practices
    Salmon, Kristiana
    Anoja, Nancy
    Breiner, Ari
    Chum, Marvin
    Dionne, Annie
    Dupre, Nicolas
    Fiander, Amanda
    Fok, Daniel
    Ghavanini, Amer
    Gosselin, Sylvie
    Izenberg, Aaron
    Johnston, Wendy
    Kalra, Sanjay
    Matte, Genevieve
    Melanson, Michel
    O'Connell, Colleen
    Ritsma, Benjamin
    Schellenberg, Kerri
    Shoesmith, Christen
    Tremblay, Sandra
    Williams, Heather
    Genge, Angela
    AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, 2022, 23 (3-4) : 305 - 312
  • [2] Genetic testing and genetic counseling for amyotrophic lateral sclerosis: an update for clinicians
    Roggenbuck, Jennifer
    Quick, Adam
    Kolb, Stephen J.
    GENETICS IN MEDICINE, 2017, 19 (03) : 267 - 274
  • [3] Advances in the genetic classification of amyotrophic lateral sclerosis
    Cooper-Knock, Johnathan
    Harvey, Calum
    Zhang, Sai
    Moll, Tobias
    Timpanaro, Ilia Sarah
    Kenna, Kevin P.
    Iacoangeli, Alfredo
    Veldink, Jan H.
    CURRENT OPINION IN NEUROLOGY, 2021, 34 (05) : 756 - 764
  • [4] Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications
    Iacoangeli, Alfredo
    Dilliott, Allison A.
    Al Khleifat, Ahmad
    Andersen, Peter M.
    Basak, Nazli A.
    Cooper-Knock, Johnathan
    Corcia, Philippe
    Couratier, Philippe
    Decarvalho, Mamede
    Drory, Vivian E.
    Glass, Jonathan D.
    Gotkine, Marc
    Lerner, Yosef M.
    Hardiman, Orla
    Landers, John E.
    Mclaughlin, Russell L.
    Pardina, Jesus S. Mora
    Morrison, Karen
    Pinto, Susana
    Povedano, Monica
    Shaw, Christopher E.
    Shaw, Pamela J.
    Silani, Vincenzo
    Ticozzi, Nicola
    van Damme, Philip
    van den Berg, Leonard H.
    Vourc'h, Patrick
    Weber, Markus
    Veldink, Jan Herman
    Dobson, Richard
    Rouleau, Guy A.
    Al-Chalabi, Ammar
    Farhan, Sali M. K.
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2025,
  • [5] Genetic Testing for Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: Impact on Clinical Management
    Roggenbuck, Jennifer
    Fong, Jamie C.
    CLINICS IN LABORATORY MEDICINE, 2020, 40 (03) : 271 - +
  • [6] Impact of presymptomatic genetic testing for familial amyotrophic lateral sclerosis
    Fanos, Joanna H.
    Gronka, Susan
    Wuu, Joanne
    Stanislaw, Christine
    Andersen, Peter M.
    Benatar, Michael
    GENETICS IN MEDICINE, 2011, 13 (04) : 342 - 348
  • [7] Genetic and epigenetic studies of amyotrophic lateral sclerosis
    Al-Chalabi, Ammar
    Kwak, Shin
    Mehler, Mark
    Rouleau, Guy
    Siddique, Teepu
    Strong, Michael
    Leigh, Peter Nigel
    AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, 2013, 14 : 44 - 52
  • [8] The genetics of amyotrophic lateral sclerosis
    Nijs, Melissa
    Van Damme, Philip
    CURRENT OPINION IN NEUROLOGY, 2024, 37 (05) : 560 - 569
  • [9] Genetic approximation in amyotrophic lateral sclerosis
    Cervantes-Aragon, Ivan
    Alberto Ramirez-Garcia, Sergio
    Margarita Baltazar-Rodriguez, Luz
    Garcia-Cruz, Diana
    Castaneda-Cisneros, Gema
    GACETA MEDICA DE MEXICO, 2019, 155 (05): : 513 - 521
  • [10] Genetic studies of Russian patients with amyotrophic lateral sclerosis
    Lysogorskaia, Elena V.
    Abramycheva, Nataliya Yu
    Zakharova, Mariya N.
    Stepanova, Mariya S.
    Moroz, Anna A.
    Rossokhin, Alexey V.
    Illarioshkin, Sergey N.
    AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, 2016, 17 (1-2) : 135 - 141
12345