Identification of Early Markers of Neurodegenerative Diseases in At-risk People

INSERM: A study sponsored by the AP-HP has shown for the first time that asymptomatic individuals who carry the c9orf72 mutation, which means they are at risk of developing frontotemporal degeneration (FTD) or amyotrophic lateral sclerosis (ALS), experience cognitive, anatomical, and structural changes very early on, before age 40. The ability to identify these markers before disease symptoms appear is a major discovery, as such markers are crucial in developing therapeutic trials and monitoring their efficacy.

Mercury in Fish, Seafood May Be Linked to Increased ALS Risk

Dartmouth: There is an important association between eating fish and seafood with higher levels of mercury and being at a higher risk of developing amyotrophic lateral sclerosis (ALS), according to a preliminary study released this week. Results of the study will be shared during the 69th annual meeting of the American Academy of Neurology, which will be held in Boston April 22 to 28, 2017. “For most people, eating fish is part of a healthy diet,” said study author Elijah Stommel, MD, PhD, a professor of neurology at Dartmouth’s Geisel School of Medicine, a neurologist at Dartmouth-Hitchcock Medical Center, and a fellow of the American Academy of Neurology. “But questions remain about the possible impact of mercury in fish.”

Fruits and Vegetables May Slow ALS

Columbia: A diet rich in antioxidants and carotenoids is linked with better outcomes for patients with amyotrophic lateral sclerosis. New research at Columbia University’s Mailman School of Public Health reveals that foods like fruits and vegetables that are high in antioxidant nutrients and carotenoids are associated with better function in amyotrophic lateral sclerosis (ALS) patients around the time of diagnosis. This is among the first studies to evaluate diet in association with ALS function and the first to show that healthy nutrients and antioxidants are associated with better ALS functioning. The findings are published online in JAMA Neurology.

New treatment hope for Amyotrophic Lateral Sclerosis

Montreal: A previously unknown link between the immune system and the death of motor neurons in amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, has been discovered by scientists at the CHUM Research Centre and the University of Montreal. The finding paves the way to a whole new approach for finding a drug that can cure or at least slow the progression of such neurodegenerative diseases as ALS, Alzheimer's, Parkinson's and Huntington's diseases. The study, published today in Nature Communications, shows that the immune system in the animal model C. elegans, a tiny 1 mm-long roundworm, plays a critical role in the development of ALS.

Is Diabetes Protective Against Amyotrophic Lateral Sclerosis?

JAMA: A study of patients in Denmark suggests that type 2 diabetes may be associated with a reduced risk for the fatal neurodegenerative disease amyotrophic lateral sclerosis (ALS), according to an article published online by JAMA Neurology. Recent reports have suggested a protective association between vascular risk factors, such as obesity or higher body mass index (BMI), higher cholesterol levels and hyperlipidemia with ALS incidence and survival. Patients with type 2 diabetes have, on average, higher BMI, elevated blood lipid levels and defective energy metabolism. However, the association between diabetes and ALS has not been widely explored.

Scientists create mice with a major genetic cause of ALS and FTD

NIH: Scientists at Mayo Clinic, Jacksonville, Florida created a novel mouse that exhibits the symptoms and neurodegeneration associated with the most common genetic forms of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS, Lou Gehrig’s disease), both of which are caused by a mutation in the a gene called C9ORF72. The study was partially funded by the National Institutes of Health and published in the journal Science.

A New Tool for Understanding ALS: Patients’ Brain Cells

Johns Hopkins: More than 30,000 people in the U.S. are diagnosed with Lou Gehrig’s disease, or amyotrophic lateral sclerosis (ALS). Johns Hopkins researchers have transformed skin cells donated by ALS patients into brain cells affected by the progressive, fatal disease. The resulting cell library is being used by researchers worldwide in the quest for better ALS treatments.

No evidence that overhead power lines accelerate development of Alzheimer's disease and ALS

Mainz: Low-frequency alternating magnetic fields such as those generated by overhead power lines are considered a potential health risk because epidemiological studies indicate that they may aggravate, among other things, neurodegenerative disorders such as Alzheimer's disease and amyotrophic lateral sclerosis (ALS). However, a recent study by researchers at the Institute of Pathobiochemistry at the Medical Center of Johannes Gutenberg University Mainz (JGU) has produced no evidence that these fields can cause exacerbation or accelerated disease development in relevant mouse models. Neither learning behavior nor known disease mechanisms at the cellular level were affected. The results of the study have been published in the eminent journal Scientific Reports of the Nature Publishing Group.

New Insights Into Causes of amyotrophic lateral sclerosis

Utah University. US: In the wake of the ALS ice bucket challenge, scientists have made important progress on discovering causes of ALS, amyotrophic lateral sclerosis also known as Lou Gehrig’s disease. Patients with the progressive neurodegenerative disease lose muscle movement, many become totally paralyzed, and all die of the disease, typically within three years following the onset of symptoms. Because little is known about how the disease arises, there are no targeted therapies that slow or halt the disease.

Scripps Florida Scientists' 'Mad Cow' Discovery Points to Possible Neuron Killing Mechanism Behind Alzheimer’s and Parkinson’s Diseases

Scripps Institute. US: Scientists from the Florida campus of The Scripps Research Institute (TSRI) have for the first time discovered a killing mechanism that could underpin a range of the most intractable neurodegenerative diseases such as Alzheimer’s, Parkinson’s and ALS.

Amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterised by progressive muscular paralysis reflecting degeneration of motor neurones. The mean age of onset is about 60. ALS usually present with dysarthria and dysphagia for solid or liquids (bulbar onset), and limb symptoms (muscle weakness and spasticity). Paralysis is progressive and leads to death due to respiratory failure within 2–3 years for bulbar onset cases and 3–5 years for limb onset ALS cases.
More about  amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (in short)

• Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterised by progressive muscular paralysis reflecting degeneration of motor neurones in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. 
• Incidence (average 1.89 per 100,000/year) and prevalence (average 5.2 per100,000) are relatively uniform in Western countries, although foci of higher frequency occur in the Western Pacific. 
• The mean age of onset for sporadic ALS is about 60 years. 
• Overall, there is a slight male prevalence (M:F ratio~1.5:1). 
• Approximately two thirds of patients with typical ALS have a spinal form of the disease (limb onset) and present with symptoms related to focal muscle weakness and wasting, where the symptoms may start either distally or proximally in the upper and lower limbs. 
• Gradually, spasticity may develop in the weakened atrophic limbs, affecting manual dexterity and gait.
• Patients with bulbar onset ALS usually present with dysarthria and dysphagia for solid or liquids, and limbs symptoms can develop almost simultaneously with bulbar symptoms, and in the vast majority of cases will occur within 1–2 years. 
• Paralysis is progressive and leads to death due to respiratory failure within 2–3 years for bulbar onset cases and 3–5 years for limb onset ALS cases. 
• Most ALS cases are sporadic but 5–10% of cases are familial, and of these 20% have a mutation of the SOD1 gene and about 2–5% have mutations of the TARDBP (TDP-43) gene. Two percent of apparently sporadic patients have SOD1 mutations, and TARDBP mutations also occur in sporadic cases. 
• The diagnosis is based on clinical history, examination, electromyography, and exclusion of 'ALS-mimics' (e.g. cervical spondylotic myelopathies, multifocal motor neuropathy, Kennedy's disease) by appropriate investigations. 
• The pathological hallmarks comprise loss of motor neurones with intraneuronal ubiquitin-immunoreactive inclusions in upper motor neurones and TDP-43 immunoreactive inclusions in degenerating lower motor neurones. 
• Signs of upper motor neurone and lower motor neurone damage not explained by any other disease process are suggestive of ALS. 
• The management of ALS is supportive, palliative, and multidisciplinary. Non-invasive ventilation prolongs survival and improves quality of life. 
• Riluzole (Rilutek, Riluzole Zentiva) is the only drug that has been shown to extend survival. 

Source: Lokesh C Wijesekera and P Nigel Leigh. Orphanet Journal of Rare Diseases

Amyotrophic lateral sclerosis

Source: Lokesh C Wijesekera and P Nigel Leigh. Orphanet Journal of Rare Diseases

 

Disease names

Amyotrophic lateral sclerosis (ALS), Motor neurone disease (MND), Charcot's disease, Lou Gehrig's disease

Included diseases

Amyotrophic lateral sclerosis (ALS) is a term used to cover the spectrum of neurodegenerative syndromes characterised by progressive degeneration of motor neurones. However, it is also the term used in modern clinical practice to indicate the commonest form of the disease, Classical (Charcot's) ALS.