Medical Genetics Of Amyotrophic Lateral Sclerosis

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Medical Genetics of Amyotrophic Lateral Sclerosis

Author : Garden Grove Garden Grove Press
Publisher :
ISBN 13 : 9781545184196
Total Pages : 318 pages
Book Rating : 4.1/5 (841 download)

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Book Synopsis Medical Genetics of Amyotrophic Lateral Sclerosis by : Garden Grove Garden Grove Press

Download or read book Medical Genetics of Amyotrophic Lateral Sclerosis written by Garden Grove Garden Grove Press and published by . This book was released on 2017-04-05 with total page 318 pages. Available in PDF, EPUB and Kindle. Book excerpt: This article collection reviews the medical genetics of amyotrophic lateral sclerosis (ALS) and includes 26 papers by various authors. Topics include: Genotype-phenotype correlations of amyotrophic lateral sclerosis; Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosis; From animal models to human disease: a genetic approach for personalized medicine in ALS; Screening of the transcriptional regulatory regions of vascular endothelial growth factor receptor 2 (VEGFR2) in amyotrophic lateral sclerosis; Genotype-phenotype relationship in hereditary amyotrophic lateral sclerosis; Genetic counseling for FTD/ALS caused by the C9ORF72 hexanucleotide expansion; Amyotrophic lateral sclerosis; Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS); Stem cell therapy for amyotrophic lateral sclerosis; Genome-wide association reveals three SNPs associated with sporadic amyotrophic lateral sclerosis through a two-locus analysis; Astroglia acquires a toxic neuroinflammatory role in response to the cerebrospinal fluid from amyotrophic lateral sclerosis patients; Gene ontology analysis of pairwise genetic associations in two genome-wide studies of sporadic ALS; The interplay between metabolic homeostasis and neurodegeneration: insights into the neurometabolic nature of amyotrophic lateral sclerosis; FUS/TLS deficiency causes behavioral and pathological abnormalities distinct from amyotrophic lateral sclerosis; Tdp-43 cryptic exons are highly variable between cell types; A data-driven approach links microglia to pathology and prognosis in amyotrophic lateral sclerosis; Low autophagy capacity implicated in motor system vulnerability to mutant superoxide dismutase; Neural stem cells: ready for therapeutic applications?; TDP-43 protein variants as biomarkers in amyotrophic lateral sclerosis; Heterogeneity of cerebral TDP-43 pathology in sporadic amyotrophic lateral sclerosis: Evidence for clinico-pathologic subtypes; Complement activation at the motor end-plates in amyotrophic lateral sclerosis; Pathogenesis of FUS-associated ALS and FTD: insights from rodent models; Directly converted patient-specific induced neurons mirror the neuropathology of FUS with disrupted nuclear localization in amyotrophic lateral sclerosis; SIRT1 overexpression ameliorates a mouse model of SOD1-linked amyotrophic lateral sclerosis via HSF1/HSP70i chaperone system; Weighted gene co-expression network analysis of the peripheral blood from Amyotrophic Lateral Sclerosis patients; Identification of plasma microRNAs as a biomarker of sporadic Amyotrophic Lateral Sclerosis. Proceeds from the sale of this book go to the support of an elderly disabled person.

Spectrums of Amyotrophic Lateral Sclerosis

Author : Christopher A. Shaw
Publisher : John Wiley & Sons
ISBN 13 : 1119745500
Total Pages : 240 pages
Book Rating : 4.1/5 (197 download)

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Book Synopsis Spectrums of Amyotrophic Lateral Sclerosis by : Christopher A. Shaw

Download or read book Spectrums of Amyotrophic Lateral Sclerosis written by Christopher A. Shaw and published by John Wiley & Sons. This book was released on 2021-04-20 with total page 240 pages. Available in PDF, EPUB and Kindle. Book excerpt: SPECTRUMS OF AMYOTROPHIC LATERAL SCLEROSIS Discover state-of-the-art research findings on ALS from leading authors and editors in the field In Spectrums of Amyotrophic Lateral Sclerosis: Heterogeneity, Pathogenesis & Therapeutic Directions, distinguished researchers and editors Dr. Christopher A. Shaw and Jessica R. Morrice deliver a practical and powerful perspective on Amyotrophic Lateral Sclerosis (ALS) as a heterogeneous spectrum of disorders. This increasingly accepted point-of-view allows researchers and medical professionals to develop better targeted interventions and more precise therapies. In the book, readers will find chapters on a wide variety of critical issues facing ALS researchers and healthcare practitioners treating ALS sufferers, including animal models of ALS, neuronal support cells known to have a pivotal role in ALS, and current challenges in ALS clinical trials, among others. The authors describe pathologic features common to all cases of ALS and why animal models, though crucial, should be interpreted with caution. Finally, multiple genetic and environmental etiologies of the disease are discussed. Readers will also benefit from the inclusion of: A thorough introduction to ALS as a spectrum disease and the implications for models, therapeutic development and clinical trial design Explorations of the genetic basis of ALS, prospective sALS etiologies, and the involvement of microbiome in ALS Discussions of ALS-PDC and environmental risk factors, protein aggregation in ALS, defects in RNA metabolism in ALS, and the non-cell autonomous nature of ALS and the involvement of glial cells Examinations of animal models of ALS and perspectives on previously failed ALS therapeutics and current therapeutic strategies Perfect for clinical neurologists, healthcare providers and caretakers, clinicians, and researchers studying motor neuron disease, Spectrums of Amyotrophic Lateral Sclerosis: Heterogeneity, Pathogenesis & Therapeutic Directions is also an indispensable resource for the neurodegenerative research community, neurology residents, and graduate-level neuroscience students.

Palliative Care in Amyotrophic Lateral Sclerosis

Author : David Oliver
Publisher : OUP Oxford
ISBN 13 : 0191509507
Total Pages : 353 pages
Book Rating : 4.1/5 (915 download)

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Book Synopsis Palliative Care in Amyotrophic Lateral Sclerosis by : David Oliver

Download or read book Palliative Care in Amyotrophic Lateral Sclerosis written by David Oliver and published by OUP Oxford. This book was released on 2014-03-20 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: Amytrophic Lateral Sclerosis (ALS or motor neurone disease) is a progressive neurodegenerative disease that can cause profound suffering for both the patient and their family. Whilst new treatments for ALS are being developed, these are not curative and offer only the potential to slow its progression. Palliative care must therefore be integral to the clinical approach to the disease. Palliative Care in Amyotrophic Lateral Sclerosis: From diagnosis to bereavement reflects the wide scope of this care; it must cover not just the terminal phase, but support the patient and their family from the onset of the disease. Both the multidisciplinary palliative care team and the neurology team are essential in providing a high standard of care and allowing quality of life (both patient and carer) to be maintained. Clear guidelines are provided to address care throughout the disease process. Control of symptoms is covered alongside the psychosocial care of patients and their families. Case studies are used to emphasise the complexity of the care needs and involvement of the patient and family, culminating in discussion of bereavement. Different models of care are explored, and this new edition utilizes the increase in both the evidence-base and available literature on the subject. New topics discussed include complementary therapies, personal and family experiences of ALS, new genetics research, and updated guidelines for patient care, to ensure this new edition remains the essential guide to palliative care in ALS.

Molecular and Cellular Therapies for Motor Neuron Diseases

Author : Nicholas M Boulis
Publisher : Academic Press
ISBN 13 : 0128025247
Total Pages : 337 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Molecular and Cellular Therapies for Motor Neuron Diseases by : Nicholas M Boulis

Download or read book Molecular and Cellular Therapies for Motor Neuron Diseases written by Nicholas M Boulis and published by Academic Press. This book was released on 2017-01-18 with total page 337 pages. Available in PDF, EPUB and Kindle. Book excerpt: Molecular and Cellular Therapies for Motor Neuron Diseases discusses the basics of the diseases, also covering advances in research and clinical trials. The book provides a resource for students that will help them learn the basics in a detailed manner that is required for scientists and clinicians. Users will find a comprehensive overview of the background of Amyotrophic Lateral Sclerosis (ALS/Lou Gehrig's Disease) and Spinal Muscular Atrophy (SMA), along with the current understanding of their genetics and mechanisms. In addition, the book details gene and cell therapies that have been developed and their translation to clinical trials. - Provides an overview of gene and cell therapies for amyotrophic lateral sclerosis (ALS) and other motor neuron diseases - Edited by a leading Neurosurgeon and two research scientists to promote synthesis between basic neuroscience and clinical relevance - Presents a great resource for researchers and practitioners in neuroscience, neurology, and gene and cell therapy

Genetics of Amyotrophic Lateral Sclerosis

Author : Max Koppers
Publisher :
ISBN 13 :
Total Pages : pages
Book Rating : 4.:/5 (115 download)

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Book Synopsis Genetics of Amyotrophic Lateral Sclerosis by : Max Koppers

Download or read book Genetics of Amyotrophic Lateral Sclerosis written by Max Koppers and published by . This book was released on 2012 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics of Amyotrophic Lateral Sclerosis.

Amyotrophic Lateral Sclerosis

Author : Martin Henrik Maurer
Publisher : IntechOpen
ISBN 13 : 9789533078069
Total Pages : 740 pages
Book Rating : 4.0/5 (78 download)

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Book Synopsis Amyotrophic Lateral Sclerosis by : Martin Henrik Maurer

Download or read book Amyotrophic Lateral Sclerosis written by Martin Henrik Maurer and published by IntechOpen. This book was released on 2012-01-20 with total page 740 pages. Available in PDF, EPUB and Kindle. Book excerpt: Though considerable amount of research, both pre-clinical and clinical, has been conducted during recent years, Amyotrophic Lateral Sclerosis (ALS) remains one of the mysterious diseases of the 21st century. Great efforts have been made to develop pathophysiological models and to clarify the underlying pathology, and with novel instruments in genetics and transgenic techniques, the aim for finding a durable cure comes into scope. On the other hand, most pharmacological trials failed to show a benefit for ALS patients. In this book, the reader will find a compilation of state-of-the-art reviews about the etiology, epidemiology, and pathophysiology of ALS, the molecular basis of disease progression and clinical manifestations, the genetics familial ALS, as well as novel diagnostic criteria in the field of electrophysiology. An overview over all relevant pharmacological trials in ALS patients is also included, while the book concludes with a discussion on current advances and future trends in ALS research.

Clinical Neurophysiology of Motor Neuron Diseases

Author : Andrew Eisen
Publisher :
ISBN 13 : 9780444513595
Total Pages : 0 pages
Book Rating : 4.5/5 (135 download)

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Book Synopsis Clinical Neurophysiology of Motor Neuron Diseases by : Andrew Eisen

Download or read book Clinical Neurophysiology of Motor Neuron Diseases written by Andrew Eisen and published by . This book was released on 2004 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: The volume summarizes the most recent knowledge in the field of motor system (upper and lower motor neuron) physiology and pathophysiology as related to diseases of this system. It covers the various aspects of motor system disorders from the motor cortex to the spinal anterior horn cell. Emphasis is placed on clinical disorders as they affect the human motor system and includes critical discussion of advances in techniques for diagnosing and understanding the pathophysiology of disorders affecting the motor system, describing approaches to characterization of disease type, location, severity and prognosis. There is discussion of the specificity and sensitivity of methodological techniques used in diagnosis, with comparison among the various methods. The ultimate reference source for clinical neurophysiologists on disorders of visual processing. Volume in a prestigious series published in association with the International Federation of clinical Neurophysiology. International contributor list drawn from around the world. Covers the various aspects of motor system disorders from the motor cortex to the spinal anterior horn cell. Emphasises clinical disorders as they affect the human motor system. Includes critical discussion of techniques for diagnosing and understanding the pathophysiology of disorders affecting the motor system. Discusses specificity and sensitivity of diagnostic techniques.

Cerebrospinal Fluid Biomarkers

Author : Charlotte E. Teunissen
Publisher : Humana
ISBN 13 : 9781071613214
Total Pages : 236 pages
Book Rating : 4.6/5 (132 download)

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Book Synopsis Cerebrospinal Fluid Biomarkers by : Charlotte E. Teunissen

Download or read book Cerebrospinal Fluid Biomarkers written by Charlotte E. Teunissen and published by Humana. This book was released on 2022-05-19 with total page 236 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume covers the latest methods used in clinical neurochemistry laboratories for both clinical practice and research. Chapters in this book discuss topics such as techniques for cerebrospinal fluid (CSF) collection, pre-analytical processing, and basic CSF analysis; an examination of biomarkers including ELISA and automated immunochemical assays for amyloid and tau markers for Alzheimer’s disease; the analysis of neurofilaments by digital ELISA; and an example of successful novel immunoassay development. In the Neuromethods series style, chapters include the kind of detail and key advice from the specialists needed to get successful results in your laboratory. Cutting-edge and thorough, Cerebrospinal Fluid Biomarkers is a valuable resource for clinicians and researchers to use in CSF labs and CSF courses.

Amyotrophic Lateral Sclerosis

Author : Martin Henrik Maurer
Publisher : BoD – Books on Demand
ISBN 13 : 9533078065
Total Pages : 742 pages
Book Rating : 4.5/5 (33 download)

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Book Synopsis Amyotrophic Lateral Sclerosis by : Martin Henrik Maurer

Download or read book Amyotrophic Lateral Sclerosis written by Martin Henrik Maurer and published by BoD – Books on Demand. This book was released on 2012-01-20 with total page 742 pages. Available in PDF, EPUB and Kindle. Book excerpt: Though considerable amount of research, both pre-clinical and clinical, has been conducted during recent years, Amyotrophic Lateral Sclerosis (ALS) remains one of the mysterious diseases of the 21st century. Great efforts have been made to develop pathophysiological models and to clarify the underlying pathology, and with novel instruments in genetics and transgenic techniques, the aim for finding a durable cure comes into scope. On the other hand, most pharmacological trials failed to show a benefit for ALS patients. In this book, the reader will find a compilation of state-of-the-art reviews about the etiology, epidemiology, and pathophysiology of ALS, the molecular basis of disease progression and clinical manifestations, the genetics familial ALS, as well as novel diagnostic criteria in the field of electrophysiology. An overview over all relevant pharmacological trials in ALS patients is also included, while the book concludes with a discussion on current advances and future trends in ALS research.

New Insights Into Amyotrophic Lateral Sclerosis

Author : Lisa Rowe
Publisher :
ISBN 13 : 9781632412966
Total Pages : 0 pages
Book Rating : 4.4/5 (129 download)

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Book Synopsis New Insights Into Amyotrophic Lateral Sclerosis by : Lisa Rowe

Download or read book New Insights Into Amyotrophic Lateral Sclerosis written by Lisa Rowe and published by . This book was released on 2015-01-12 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Amyotrophic Lateral Sclerosis (ALS) continues to be one of the mysterious diseases of 21st century, even though ample amount of research; both pre-clinical and clinical, has been conducted during the past few years. Significant attempts have been made for

Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia

Author : Henry Houlden
Publisher : Frontiers Media SA
ISBN 13 : 2889669041
Total Pages : 141 pages
Book Rating : 4.8/5 (896 download)

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Book Synopsis Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia by : Henry Houlden

Download or read book Multifaceted Genes in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia written by Henry Houlden and published by Frontiers Media SA. This book was released on 2021-06-28 with total page 141 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Neuropathology of Neurodegenerative Diseases

Author : Gabor G. Kovacs
Publisher : Cambridge University Press
ISBN 13 : 1316337650
Total Pages : 320 pages
Book Rating : 4.3/5 (163 download)

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Book Synopsis Neuropathology of Neurodegenerative Diseases by : Gabor G. Kovacs

Download or read book Neuropathology of Neurodegenerative Diseases written by Gabor G. Kovacs and published by Cambridge University Press. This book was released on 2017-12-13 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: This practical guide to the diagnosis of neurodegenerative diseases discusses modern molecular techniques, morphological classification, fundamentals of clinical symptomology, diagnostic pitfalls and immunostaining protocols. It is based on the proteinopathy concept of neurodegenerative disease, which has influenced classification and provides new strategies for therapy. Numerous high-quality images, including histopathology photomicrographs and neuroradiology scans, accompany the description of morphologic alterations and interpretation of immunoreactivities. Diagnostic methods and criteria are placed within recent developments in neuropathology, including the now widespread application of immunohistochemistry. To aid daily practice, the guide includes diagnostic algorithms and offers personal insights from experienced experts in the field. Special focus is given to the way brain tissue should be handled during diagnosis. This is a must-have reference for medical specialists and specialist medical trainees in the fields of pathology, neuropathology and neurology working with neuropathologic features of neurodegenerative diseases.

Tuesdays with Morrie

Author : Mitch Albom
Publisher : Crown
ISBN 13 : 0307414094
Total Pages : 226 pages
Book Rating : 4.3/5 (74 download)

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Book Synopsis Tuesdays with Morrie by : Mitch Albom

Download or read book Tuesdays with Morrie written by Mitch Albom and published by Crown. This book was released on 2007-06-29 with total page 226 pages. Available in PDF, EPUB and Kindle. Book excerpt: #1 NEW YORK TIMES BESTSELLER • A special 25th anniversary edition of the beloved book that has changed millions of lives with the story of an unforgettable friendship, the timeless wisdom of older generations, and healing lessons on loss and grief—featuring a new afterword by the author “A wonderful book, a story of the heart told by a writer with soul.”—Los Angeles Times “The most important thing in life is to learn how to give out love, and to let it come in.” Maybe it was a grandparent, or a teacher, or a colleague. Someone older, patient and wise, who understood you when you were young and searching, helped you see the world as a more profound place, gave you sound advice to help you make your way through it. For Mitch Albom, that person was his college professor Morrie Schwartz. Maybe, like Mitch, you lost track of this mentor as you made your way, and the insights faded, and the world seemed colder. Wouldn’t you like to see that person again, ask the bigger questions that still haunt you, receive wisdom for your busy life today the way you once did when you were younger? Mitch Albom had that second chance. He rediscovered Morrie in the last months of the older man’s life. Knowing he was dying, Morrie visited with Mitch in his study every Tuesday, just as they used to back in college. Their rekindled relationship turned into one final “class”: lessons in how to live. “The truth is, Mitch,” he said, “once you learn how to die, you learn how to live.” Tuesdays with Morrie is a magical chronicle of their time together, through which Mitch shares Morrie’s lasting gift with the world.

Drosophila Models for Human Diseases

Author : Masamitsu Yamaguchi
Publisher : Springer
ISBN 13 : 9811305293
Total Pages : 314 pages
Book Rating : 4.8/5 (113 download)

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Book Synopsis Drosophila Models for Human Diseases by : Masamitsu Yamaguchi

Download or read book Drosophila Models for Human Diseases written by Masamitsu Yamaguchi and published by Springer. This book was released on 2018-06-27 with total page 314 pages. Available in PDF, EPUB and Kindle. Book excerpt: Most biological pathways, physical and neurological properties are highly conserved between humans and Drosophila and nearly 75% of human disease-causing genes have a functional homologue in Drosophila. This volume provides recent advances in Drosophila models for various human diseases, with each chapter providing a review of studies involving Drosophila models, as well as detailed protocols commonly used in laboratories. Starting with a review of Drosophila’s value as a highly tractable model organism for studying human diseases, subsequent chapters present Drosophila models for specific human diseases. The book provides a useful resource for all scientists who are starting to use the Drosophila model in their studies, and for researchers working in the pharmaceutical industry and using new screening models to develop new medicines for various diseases.

Amyotrophic Lateral Sclerosis, Lou Gehrig's Disease

Author :
Publisher :
ISBN 13 :
Total Pages : 24 pages
Book Rating : 4.0/5 ( download)

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Book Synopsis Amyotrophic Lateral Sclerosis, Lou Gehrig's Disease by :

Download or read book Amyotrophic Lateral Sclerosis, Lou Gehrig's Disease written by and published by . This book was released on 1983 with total page 24 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Clinical and Molecular Aspects of Motor Neuron Disease

Author : Johnathan Cooper-Knock
Publisher : Biota Publishing
ISBN 13 : 1615044299
Total Pages : 62 pages
Book Rating : 4.6/5 (15 download)

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Book Synopsis Clinical and Molecular Aspects of Motor Neuron Disease by : Johnathan Cooper-Knock

Download or read book Clinical and Molecular Aspects of Motor Neuron Disease written by Johnathan Cooper-Knock and published by Biota Publishing. This book was released on 2013-09-01 with total page 62 pages. Available in PDF, EPUB and Kindle. Book excerpt: In this e-book, motor neuron disease (MND) shall refer to amyotrophic lateral sclerosis (ALS), the most common neurodegenerative disorder affecting both the upper and lower motor neurons. With the discovery of C9ORF72 expansions in approximately 10% of all MND cases, in certain populations, we stand at the brink of a new era of MND research and hopefully treatment facilitated by the ability to associate a relatively large group of patients with a similar disease mechanism. This review will summarise both current clinical management of MND and our present understanding of the molecular pathogenesis of MND. Study of C9ORF72-MND has the potential to rapidly advance both of these aspects in the coming years.

Amyotrophic Lateral Sclerosis

Author : Lila Bassir Dayani
Publisher :
ISBN 13 : 9781124675145
Total Pages : 76 pages
Book Rating : 4.6/5 (751 download)

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Book Synopsis Amyotrophic Lateral Sclerosis by : Lila Bassir Dayani

Download or read book Amyotrophic Lateral Sclerosis written by Lila Bassir Dayani and published by . This book was released on 2011 with total page 76 pages. Available in PDF, EPUB and Kindle. Book excerpt: Amyotrophic lateral sclerosis (ALS) is a progressive, fatal, neurodegenerative disease. Approximately 5-10% of cases are familial (fALS), and many genes have been identified, most with dominant inheritance patterns. Recently, cases with sporadic ALS (sALS) have also been found to carry mutations. The primary goal of this study was to evaluate the attitudes and beliefs of individuals with ALS regarding genetics and genetics testing. In a qualitative study, 65 subjects with ALS were surveyed to assess personal beliefs regarding causes of ALS, perception of the role genetics plays in ALS, and experiences with/interest in genetic testing. Genetic testing for ALS is available, but not routinely offered. Arguments against testing include that mutational analysis would not impact management and that for some genes, mutations may show reduced penetrance or variable expressivity, leading to a problematic predictive value. In our sample, 5 individuals (8%) had a relative diagnosed with ALS and an additional 6 (9%) had a relative with ALS-like symptoms. We found that 23% of the sALS cohort and 50% (2/4) of the fALS cohort had undergone genetic testing. One sALS individual was found to carry a deleterious mutation. Furthermore, 58% were interested in speaking with a health professional regarding ALS and genetics. Benefits of genetic testing for the patient could include: value of knowing a cause, informing at-risk family members, and predicting recurrence risks and eligibility for clinical trials restricted to ALS patients with identified mutations. Our results indicate a need to offer genetic counseling to this population.