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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 18, 2017 - Issue 7-8
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Research Article

Predictive genetic testing for amyotrophic lateral sclerosis and frontotemporal dementia: genetic counselling considerations

Ashley CrookDepartment of Clinical Medicine, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia and Correspondence[email protected]
ORCID Iconhttp://orcid.org/0000-0001-5578-0460
ORCID Icon,
Kelly WilliamsCentre for MND Research, Department of Biomedical Science, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, AustraliaORCID Iconhttp://orcid.org/0000-0001-6319-9473
ORCID Icon,
Lorel AdamsDepartment of Clinical Medicine, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia and
,
Ian BlairCentre for MND Research, Department of Biomedical Science, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia
&
Dominic B. RoweDepartment of Clinical Medicine, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, New South Wales, Australia and ORCID Iconhttp://orcid.org/0000-0003-0912-2146
ORCID Icon
Pages 475-485 | Received 08 Jan 2017, Accepted 15 May 2017, Published online: 06 Jun 2017

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Kristiana Salmon, Nancy Anoja, Ari Breiner, Marvin Chum, Annie Dionne, Nicolas Dupré, Amanda Fiander, Daniel Fok, Amer Ghavanini, Sylvie Gosselin, Aaron Izenberg, Wendy Johnston, Sanjay Kalra, Geneviève Matte, Michel Melanson, Colleen O’Connell, Benjamin Ritsma, Kerri Schellenberg, Christen Shoesmith, Sandra Tremblay, Heather Williams & Angela Genge. (2022) Genetic testing for amyotrophic lateral sclerosis in Canada – an assessment of current practices. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 23:3-4, pages 305-312.
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Ashley Crook, Alison McEwen, Jennifer A. Fifita, Katharine Zhang, John B. Kwok, Glenda Halliday, Ian P. Blair & Dominic B. Rowe. (2019) The C9orf72 hexanucleotide repeat expansion presents a challenge for testing laboratories and genetic counseling. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration 20:5-6, pages 310-316.
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Articles from other publishers (21)

Laynie Dratch, Weiyi Mu, Elisabeth McCarty Wood, Brianna Morgan, Lauren Massimo, Cynthia Clyburn, Tanya Bardakjian, Murray Grossman, David J. Irwin & Katheryn A.Q. Cousins. (2023) Evaluation of an educational conference for persons affected by hereditary frontotemporal degeneration and amyotrophic lateral sclerosis. PEC Innovation 2, pages 100108.
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Jennifer Roggenbuck, Breda H. F. Eubank, Joshua Wright, Matthew B. Harms & Stephen J. Kolb. (2023) Evidence‐based consensus guidelines for ALS genetic testing and counseling . Annals of Clinical and Translational Neurology 10:11, pages 2074-2091.
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Laynie Dratch, Jill Owczarzak, Weiyi Mu, Katheryn A. Q. Cousins, Lauren Massimo, Murray Grossman & Lori Erby. (2023) The lived experience of reconstructing identity in response to genetic risk of frontotemporal degeneration and amyotrophic lateral sclerosis. Journal of Genetic Counseling.
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Yesica Arlae Reyes-Domínguez, Luis E. Figuera & Aniel Jessica Leticia Brambila-Tapia. (2023) Perceptions of Knowledge, Disease Impact and Predictive Genetic Testing in Family Members at Risk to Develop Early-Onset Alzheimer’s Disease (EOAD) and Their Levels of Suicidal Ideation: A Mixed Study. Brain Sciences 13:3, pages 501.
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Maddison Wiggins, Alison McEwen & Adrienne Sexton. (2023) Young-onset dementia: A systematic review of the psychological and social impact on relatives. Patient Education and Counseling 107, pages 107585.
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Midori Kimura, Sawako Matsuzaki, Kanako Ishii, Masanobu Ogawa & Kiyoko Kato. (2023) Individual experiences and issues in predictive genetic testing for untreatable hereditary neuromuscular diseases in Japan. European Journal of Medical Genetics 66:1, pages 104667.
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Jill S. Goldman & Sonia M. Vallabh. (2022) Genetic counseling for prion disease: Updates and best practices. Genetics in Medicine 24:10, pages 1993-2003.
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Yu Wang, Xiaohui Duan, Xiao Zhou, Renbin Wang, Xiangfei Zhang, Zhenhua Cao, Xiaoxia Wang, Zhi Zhou, Yu Sun & Dantao Peng. (2022) ANXA11 mutations are associated with amyotrophic lateral sclerosis–frontotemporal dementia. Frontiers in Neurology 13.
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Sanna‐Maria Nurmi, Arja Halkoaho, Jukka Moilanen, Anne M. Remes & Eino Solje. (2020) The ethical implications of genetic testing in neurodegenerative diseases: A systematic review. Scandinavian Journal of Caring Sciences 35:4, pages 1057-1074.
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Jill Goldman, Shanghong Xie, Dina Green, Ali Naini, Mahesh M. Mansukhani & Karen Marder. (2020) Predictive testing for neurodegenerative diseases in the age of next‐generation sequencing. Journal of Genetic Counseling 30:2, pages 553-562.
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Maria del Mar AmadorMarcela GargiuloChristilla BoucherAriane HersonStéphanie StaraciFrançois SalachasFabienne ClotCécile CazeneuveIsabelle Le BerAlexandra Durr. (2021) Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease. Neurology Genetics 7:1.
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Samar Aoun, Carol Birks, Anne Hogden & Susan Mathers. 2021. Public Policy in ALS/MND Care. Public Policy in ALS/MND Care 29 49 .
Lyndal Henden, Natalie A. Twine, Piotr Szul, Emily P. McCann, Garth A. Nicholson, Dominic B. Rowe, Matthew C. Kiernan, Denis C. Bauer, Ian P. Blair & Kelly L. Williams. (2020) Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS cases. npj Genomic Medicine 5:1.
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Jill S. Goldman. (2020) Predictive Genetic Counseling for Neurodegenerative Diseases: Past, Present, and Future. Cold Spring Harbor Perspectives in Medicine 10:7, pages a036525.
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Valentina Pecoraro, Jessica Mandrioli, Chiara Carone, Adriano Chiò, Bryan J. Traynor & Tommaso Trenti. (2020) The NGS technology for the identification of genes associated with the ALS. A systematic review. European Journal of Clinical Investigation 50:5.
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Wendy R. Uhlmann. 2020. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease 209 220 .
Caroline V. Greaves & Jonathan D. Rohrer. (2019) An update on genetic frontotemporal dementia. Journal of Neurology 266:8, pages 2075-2086.
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David Foxe, Elle Elan, James R. Burrell, Felicity V. C. Leslie, Emma Devenney, John B. Kwok, Glenda M. Halliday, John R. Hodges & Olivier Piguet. (2018) Intrafamilial Phenotypic Variability in the C9orf72 Gene Expansion: 2 Case Studies. Frontiers in Psychology 9.
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Anne Hogden, Samar M. Aoun & Peter L. Silbert. (2018) Palliative Care in Neurology: Integrating a Palliative Approach to Amyotrophic Lateral Sclerosis Care. EMJ Neurology, pages 68-76.
Crossref
Kang ZhangQing LiuKeqiang LiuDongchao ShenHongfei TaiShi ShuQingyun DingHanhui FuShuangwu LiuZhili WangXiaoguang LiMingsheng LiuXue ZhangLiying Cui. (2018) ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia . Neurology Genetics 4:3.
Crossref
Anne Hogden & Ashley Crook. (2017) Patient-centered decision making in amyotrophic lateral sclerosis: where are we?. Neurodegenerative Disease Management 7:6, pages 377-386.
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