Stephen Hawking May Have Been the Longest-Living ALS Survivor. Here ’s What We Know

The world lost one of its most brilliant scientific minds Wednesday, when legendary physicist Stephen Hawking died at age 76. Hawking’s cause of death was likely amyotrophic lateral sclerosis, or ALS, a neurodegenerative disease that wears away at nerve and muscle function over time. He was first diagnosed with ALS more than five decades ago, at age 21, and was initially given just a few years to live — making the very nature of his long, illustrious career as much of a scientific marvel as the theories and discoveries it yielded. Here’s what to know about ALS, and what may have allowed Hawking to beat the odds for so long. What is ALS? ALS, also known as Lou Gehrig’s disease, is a progressive neurodegenerative disease that erodes motor neurons — cells in the brain and spinal cord that control muscular function — until it becomes difficult or impossible for a person to walk, talk, speak, swallow and breathe, according to the ALS Association. ALS symptoms often begin with slurred speech or muscle weakness and twitching, according to the Mayo Clinic, and get worse over time. The rate at which a person’s condition degrades can vary quite a bit, though the average survival time is three years after diagnosis, the ALS Association says. While there’s no cure for ALS, the condition can be managed with medication, physical therapy, occupational therapy and speech therapy. Some patients also use ventilators to assist with breathing. Who...
Source: TIME: Health - Category: Consumer Health News Authors: Tags: Uncategorized healthytime medicine onetime Source Type: news

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Abstract Cellular adaption to nutrient stress is exquisitely regulated, and its dysregulation could underlie human diseases including neurodegeneration. C9orf72 is linked to the most common forms of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) as well as rare cases of other neurological disorders. Recent studies have implicated C9orf72 functions in the autophagy-lysosome pathway, but the exact roles of C9orf72 remain unclear. We found that C9orf72 is required for the lysosomal targeting and degradation of CARM1, which is an important epigenetic regulator of macroautophagy/autophagy and lip...
Source: Autophagy - Category: Cytology Authors: Tags: Autophagy Source Type: research
A G4C2 hexanucleotide repeat expansion in the noncoding region of C9orf72 is the major genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis (c9FTD/ALS). Putative disease mechanisms underlyin...
Source: Molecular Neurodegeneration - Category: Neurology Authors: Tags: Research article Source Type: research
How hexanucleotide GGGGCC (G4C2) repeat expansions in C9orf72 cause frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) is not understood. We developed a mouse model engineered to express poly(PR), a proline-arginine (PR) dipeptide repeat protein synthesized from expanded G4C2 repeats. The expression of green fluorescent protein–conjugated (PR)50 (a 50-repeat PR protein) throughout the mouse brain yielded progressive brain atrophy, neuron loss, loss of poly(PR)-positive cells, and gliosis, culminating in motor and memory impairments. We found that poly(PR) bound DNA, localized to heterochromatin, an...
Source: ScienceNOW - Category: Science Authors: Tags: Medicine, Diseases, Online Only r-articles Source Type: news
Publication date: Available online 11 February 2019Source: Journal of Molecular BiologyAuthor(s): Henriette Haukedal, Kristine FreudeAbstractAmyotrophic lateral sclerosis (ALS) and Frontotemporal dementia (FTD) are neurodegenerative disorders with clear similarities regarding their clinical, genetic and pathological features. Both are progressive, lethal disorders, with no current curative treatment available. Several genes correlated with ALS and FTD are implicated in the same molecular pathways. Strikingly, many of these genes are not exclusively expressed in neurons, but also in glial cells, suggesting a multicellular p...
Source: Journal of Molecular Biology - Category: Molecular Biology Source Type: research
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Source: International Journal of Neuroscience - Category: Neuroscience Authors: Source Type: research
AbstractWith continuing cooperation from 18 domestic and international brain banks over the last 36  years, we have analyzed the aluminum content of the temporal lobe neocortex of 511 high-quality human female brain samples from 16 diverse neurological and neurodegenerative disorders, including 2 groups of age-matched controls. Temporal lobes (Brodmann areas A20–A22) were selected for analysis because of their availability and their central role in massive information-processing operations including efferent-signal integration, cognition, and memory formation. We used the analytical technique of (i) Zeeman-type ...
Source: Molecular Neurobiology - Category: Neurology Source Type: research
In this study, we show that calorie restriction is protective against age-related increases in senescence and microglia activation and pro-inflammatory cytokine expression in an animal model of aging. Further, these protective effects mitigated age-related decline in neuroblast and neuronal production, and enhanced olfactory memory performance, a behavioral index of neurogenesis in the SVZ. Our results support the concept that calorie restriction might be an effective anti-aging intervention in the context of healthy brain aging. Greater Modest Activity in Late Life Correlates with Lower Incidence of Dementia ...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
Abstract Mutations in C9orf72 leading to hexanucleotide expansions are the most common genetic causes for amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). A phenotype resembling ALS and FTD is seen in transgenic mice overexpressing the hexanucleotide expansions, but is absent in C9orf72-deficient mice. Thus, the exact function of C9orf72 in neurons and how loss of C9orf72 may contribute to neuronal dysfunction remains to be clearly defined. Here, we showed that primary hippocampal neurons cultured from c9orf72 knockout mice have reduced dendritic arborization and spine density. Quantitative p...
Source: Autophagy - Category: Cytology Authors: Tags: Autophagy Source Type: research
ConclusionWe proposed the TBK1 mutation p.Ile334Thr as a likely pathogenic variant in bvFTD which also expanded the clinical spectrum of this variant. It can partially abrogate TBK1 functions and be responsible for FTD ‐ALS spectrum diseases through neuroinflammatory pathway.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
Abstract Differentiated tissue is particularly vulnerable to alterations in protein and organelle homeostasis. The essential protein VCP, mutated in hereditary inclusion body myopathy, amyotrophic lateral sclerosis and frontotemporal dementia, is critical for efficient clearance of misfolded proteins and damaged organelles in dividing cells, but its role in terminally differentiated tissue affected by disease mutations is less clear. To understand the relevance of VCP in differentiated tissue, we inactivated it in skeletal muscle of adult mice. Surprisingly, knockout muscle demonstrated a necrotic myopathy with in...
Source: Autophagy - Category: Cytology Authors: Tags: Autophagy Source Type: research
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