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"Amyotrophic lateral sclerosis"
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Amyotrophic Lateral Sclerosis
Progress has been made in understanding the genetic defects and the pathophysiology of this crippling motor neuron disease (commonly called Lou Gehrig’s disease). However, this information has not yet led to a successful intervention that alters the course of the disease.
Journal Article
Phase 1–2 Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS
In a phase 1–2 dose-escalation trial involving adults with ALS due to
SOD1
mutations who received intrathecal tofersen (an antisense oligonucleotide) or placebo, the levels of mutant SOD1 in the CSF were 33 percentage points lower in the highest-dose tofersen group than in the placebo group.
Journal Article
Trial of Antisense Oligonucleotide Tofersen for SOD1 ALS
The antisense molecule tofersen was tested intrathecally in 108 patients with ALS due to
SOD1
mutations. In a subgroup with faster-progressing disease, there was no clinical difference from placebo over a period of 28 weeks.
Journal Article
A life impossible : living with ALS : finding peace and wisdom within a fragile existence
\"In 2011, three years after leaving the NFL, Steve Gleason was diagnosed with ALS, a terminal disease that takes away the ability to move, talk, and breathe. Doctors gave him three years to live. He was thirty-three years old. As Steve says, he is now ten years past his expiration date. His memoir is the chronicle of a remarkable life, one filled with optimism and joy, despite the trauma and pain and despair he has experienced. Writing using eye-tracking technology, Gleason covers his pre-ALS life through the highs and lows of his NFL career with the New Orleans Saints, where he made one of the most memorable plays in Saints history, leading to a victory in the first post-Katrina home game, uplifting the city, making him a hero, and reflected in a nine-foot bronze statue outside the Superdome. Then came his heartbreaking diagnosis. Gleason lost all muscle function, he now uses Stephen Hawking-like technology to communicate, and breathes with the help of a ventilator. This book captures Gleason and his wife Michel's unmatched resilience as they reinvent their lives, refuse to succumb to despair, and face his disease realistically and existentially. This unsparing portrait argues that a person's true strength does not reside solely in one's body but also in the ability to face unfathomable adversity and still be able to love and treasure life\"-- Provided by publisher.
BOOK
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis is characterised by the progressive loss of motor neurons in the brain and spinal cord. This neurodegenerative syndrome shares pathobiological features with frontotemporal dementia and, indeed, many patients show features of both diseases. Many different genes and pathophysiological processes contribute to the disease, and it will be necessary to understand this heterogeneity to find effective treatments. In this Seminar, we discuss clinical and diagnostic approaches as well as scientific advances in the research fields of genetics, disease modelling, biomarkers, and therapeutic strategies.
Journal Article
Who was Stephen Hawking?
\"Learn more about the renowned British scientist, professor, and author who spent his entire career trying to answer the question: \"Where did the universe come from?\" Stephen Hawking was born exactly three hundred years after the death of the scientist Galileo, so maybe it was written in the stars that he would become a famous scientist in his own right. Although he was diagnosed with a neurological disease at age 21, Stephen did not let the illness define his life. Known for his groundbreaking work in physics, and identified by his wheelchair and computerized voice system, Stephen continued his research until his death in 2018. He is best known for his black hole theories and his best-selling book A Brief History of Time. Stephen Hawking is an example of a person who had a great mind, but an even greater spirit\"-- Provided by publisher.
BOOK
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis is a fatal CNS neurodegenerative disease. Despite intensive research, current management of amyotrophic lateral sclerosis remains suboptimal from diagnosis to prognosis. Recognition of the phenotypic heterogeneity of amyotrophic lateral sclerosis, global CNS dysfunction, genetic architecture, and development of novel diagnostic criteria is clarifying the spectrum of clinical presentation and facilitating diagnosis. Insights into the pathophysiology of amyotrophic lateral sclerosis, identification of disease biomarkers and modifiable risks, along with new predictive models, scales, and scoring systems, and a clinical trial pipeline of mechanism-based therapies, are changing the prognostic landscape. Although most recent advances have yet to translate into patient benefit, the idea of amyotrophic lateral sclerosis as a complex syndrome is already having tangible effects in the clinic. This Seminar will outline these insights and discuss the status of the management of amyotrophic lateral sclerosis for the general neurologist, along with future prospects that could improve care and outcomes for patients with amyotrophic lateral sclerosis.
Journal Article