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

被引：30

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：

英国医学研究理事会; 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;

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

页码：1207 / 1210

页数：4

共 50 条

[1] Genetic testing for amyotrophic lateral sclerosis in Canada - an assessment of current practices [J].

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 [J].

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 [J].

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 [J].

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] Impact of presymptomatic genetic testing for familial amyotrophic lateral sclerosis [J].

Fanos, Joanna H. ;

Gronka, Susan ;

Wuu, Joanne ;

Stanislaw, Christine ;

Andersen, Peter M. ;

Benatar, Michael .

GENETICS IN MEDICINE, 2011, 13 (04) :342-348

[6] Genetic Testing for Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: Impact on Clinical Management [J].

Roggenbuck, Jennifer ;

Fong, Jamie C. .

CLINICS IN LABORATORY MEDICINE, 2020, 40 (03) :271-+

[7] Genetic and epigenetic studies of amyotrophic lateral sclerosis [J].

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 use of genetic testing in amyotrophic lateral sclerosis (ALS): a practical approach [J].

Chaouch, Amina ;

Crook, Ashley ;

Douglas, Andrew G. L. ;

McDermott, Christopher J. ;

Al-Chalabi, Ammar ;

McNeill, Alisdair ;

Bedford, Jennifer ;

Howard, Jade ;

MacLeod, Rhona .

AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, 2025,

[9] The genetics of amyotrophic lateral sclerosis [J].

Nijs, Melissa ;

Van Damme, Philip .

CURRENT OPINION IN NEUROLOGY, 2024, 37 (05) :560-569

[10] Genetic approximation in amyotrophic lateral sclerosis [J].

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

← 1 2 3 4 5 →