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Motor neuron diseases or motor neurone diseases (MNDs) are a group of rare neurodegenerative disorders that selectively affect motor neurons, the cells which control voluntary muscles of the body. They include amyotrophic lateral sclerosis (ALS), progressive bulbar palsy (PBP), pseudobulbar palsy, progressive muscular atrophy (PMA), primary lateral sclerosis (PLS), spinal muscular atrophy (SMA) and monomelic amyotrophy (MMA), as well as some rarer variants resembling ALS.
Frontotemporal dementia (FTD), also called frontotemporal degeneration disease or frontotemporal neurocognitive disorder, encompasses several types of dementia involving the progressive degeneration of the brain's frontal and temporal lobes. Men and women appear to be equally affected. FTD generally presents as a behavioral or language disorder with gradual onset. Signs and symptoms tend to appear in late adulthood, typically between the ages of 45 and 65, although it can affect people younger or older than this. Currently, no cure or approved symptomatic treatment for FTD exists, although some off-label drugs and behavioral methods are prescribed.
Primary lateral sclerosis (PLS) is a very rare neuromuscular disease characterized by progressive muscle weakness in the voluntary muscles. PLS belongs to a group of disorders known as motor neuron diseases. Motor neuron diseases develop when the nerve cells that control voluntary muscle movement degenerate and die, causing weakness in the muscles they control.
Progressive muscular atrophy (PMA), also called Duchenne–Aran disease and Duchenne–Aran muscular atrophy, is a disorder characterised by the degeneration of lower motor neurons, resulting in generalised, progressive loss of muscle function.
Progressive bulbar palsy (PBP) is a medical condition. It belongs to a group of disorders known as motor neuron diseases. PBP is a disease that attacks the nerves supplying the bulbar muscles. These disorders are characterized by the degeneration of motor neurons in the cerebral cortex, spinal cord, brain stem, and pyramidal tracts. This specifically involves the glossopharyngeal nerve (IX), vagus nerve (X), and hypoglossal nerve (XII).
Superoxide dismutase [Cu-Zn] also known as superoxide dismutase 1 or hSod1 is an enzyme that in humans is encoded by the SOD1 gene, located on chromosome 21. SOD1 is one of three human superoxide dismutases. It is implicated in apoptosis, familial amyotrophic lateral sclerosis and Parkinson's disease.
RNA-binding protein fused in sarcoma/translocated in liposarcoma (FUS/TLS), also known as heterogeneous nuclear ribonucleoprotein P2 is a protein that in humans is encoded by the FUS gene.
Orla Hardiman (BSc MB BCh BAO MD FRCPI FAAN FTCD MRIA is an Irish consultant neurologist. She was appointed Professor of Neurology by Trinity College University of Dublin in 2014, where she heads the Academic Unit of Neurology, housed in Trinity Biomedical Sciences Institute. She leads a team of over 40 researchers focusing on clinical and translational aspects of amyotrophic lateral sclerosis and related neurodegenerations. She was the Health Service Executive National Clinical Lead for Neurology between 2019 and 2024. Hardiman has become a prominent advocate for neurological patients in Ireland, and for patients within the Irish health system generally. She was a co-founder of the Neurological Alliance of Ireland, an umbrella organisation for over 24 advocacy groups in Ireland.
Neurogenetics studies the role of genetics in the development and function of the nervous system. It considers neural characteristics as phenotypes, and is mainly based on the observation that the nervous systems of individuals, even of those belonging to the same species, may not be identical. As the name implies, it draws aspects from both the studies of neuroscience and genetics, focusing in particular how the genetic code an organism carries affects its expressed traits. Mutations in this genetic sequence can have a wide range of effects on the quality of life of the individual. Neurological diseases, behavior and personality are all studied in the context of neurogenetics. The field of neurogenetics emerged in the mid to late 20th century with advances closely following advancements made in available technology. Currently, neurogenetics is the center of much research utilizing cutting edge techniques.
Amyotrophic lateral sclerosis (ALS), also known as motor neurone disease (MND) or Lou Gehrig's disease (LGD) in the United States, is a rare, terminal neurodegenerative disorder that results in the progressive loss of both upper and lower motor neurons that normally control voluntary muscle contraction. ALS is the most common form of the motor neuron diseases. ALS often presents in its early stages with gradual muscle stiffness, twitches, weakness, and wasting. Motor neuron loss typically continues until the abilities to eat, speak, move, and, lastly, breathe are all lost. While only 15% of people with ALS also fully develop frontotemporal dementia, an estimated 50% face at least some minor difficulties with thinking and behavior. Depending on which of the aforementioned symptoms develops first, ALS is classified as limb-onset or bulbar-onset.
C9orf72 is a protein which in humans is encoded by the gene C9orf72.
The Les Turner ALS Foundation is a non-profit organization based in Chicago that provides amyotrophic lateral sclerosis (ALS) patient services; supports events, education and awareness about ALS; and funds ALS research. Since it was founded, it has raised over $64 million.
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that typically affects adults around 54–67 years of age, although anyone can be diagnosed with the disease. People diagnosed with ALS live on average 2–4 years after diagnosis due to the quick progression of the disease. The progression and severity of ALS is rated by doctors on the ALS Functional Rating Scale, which has been revised and is referred to as ALSFRS-R.
There are more than 25 genes known to be associated with amyotrophic lateral sclerosis (ALS) as of June 2018, which collectively account for about 70% of cases of familial ALS (fALS) and 10% of cases of sporadic ALS (sALS). About 5–10% of cases of ALS are directly inherited. Overall, first-degree relatives of an individual with ALS have a 1% risk of developing ALS. ALS has an oligogenic mode of inheritance, meaning that mutations in two or more genes are required to cause disease.
Research on amyotrophic lateral sclerosis (ALS) has focused on animal models of the disease, its mechanisms, ways to diagnose and track it, and treatments.
Bryan J. Traynor is a neurologist and a senior investigator at the National Institute on Aging, and an adjunct professor at Johns Hopkins University. Dr. Traynor studies the genetics of human neurological conditions such as amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). He led the international consortium that identified pathogenic repeat expansions in the C9orf72 gene as a common cause of ALS and FTD. Dr. Traynor also led efforts that identified other Mendelian genes responsible for familial ALS and dementia, including VCP, MATR3, KIF5A, HTT, and SPTLC1.
The Sheila Essey Award for ALS Research was established in 1996 and is sponsored by the American Academy of Neurology. The prize is funded through the philanthropy of the Essey family and the ALS Association. The award recognizes an individual who has made seminal research contributions in the search for the cause, prevention of, and cure for amyotrophic lateral sclerosis.
Elizabeth Mary Claire Fisher is a British geneticist and Professor at University College London. Her research investigates the degeneration of motor neurons during amyotrophic lateral sclerosis and Alzheimer's disease triggered by Down syndrome.
Merit Cudkowicz is an American neurologist and neuroscientist who studies amyotrophic lateral sclerosis (ALS). Cudkowicz is Julieanne Dorn Professor of Neurology at Harvard Medical School, director of the ALS clinic and the Neurological Clinical Research Institute at Massachusetts General Hospital (MGH), and chair of the Department of Neurology at MGH. Cudkowicz has led several large-scale collaborations and clinical trials to test novel treatments for ALS and as of 2020, researching ways to detect early biomarkers of ALS to improve diagnosis.
Ammar Al-Chalabi is Professor of Neurology and Complex Disease Genetics at the Maurice Wohl Clinical Neuroscience Institute at King's College London, where he is also head of the Department of Basic and Clinical Neuroscience and Director of the King's Motor Neuron Disease Research Centre. In 2020, he received the Forbes Norris Award from the International Alliance Of Als/Mnd Associations and was a co-winner of the Healey Center International Prize for Innovation in ALS. His other awards include the Sheila Essey Award from the American Academy of Neurology and the Charcot Young Investigator Award from the Motor Neurone Disease Association. In 2021 he was appointed Senior Investigator at the National Institute for Health Research (NIHR).
References
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- 1 2 3 "SHAW, Christopher Edward Dennistoun (born 1960), Professor of Neurology and Neurogenetics, King's College London, since 2004 : Who's Who - oi". Who's Who. Oxford University Press. doi:10.1093/ww/9780199540884.013.u245495 . Retrieved 12 April 2016.
- 1 2 3 4 "Chris Shaw". Biomedical Research Centre. National Institute for Health Research. Archived from the original on 11 April 2016. Retrieved 8 April 2016.
- 1 2 "Research". Racing 4 MND. Racing4MND. Retrieved 8 April 2016.
- ↑ "Professor Christopher Shaw". King's College London. Retrieved 8 April 2016.
- ↑ "Christopher Shaw". Project MinE. Retrieved 8 April 2016.
- ↑ Fallik, Dawn (July 2012). "IN THE FIELD: Sheila Essey Awardee Christopher Shaw, MBChB, MD: On Taking the Back Roads to Unraveling ALS Genetics". Neurology Today. 12 (13): 28–29. doi:10.1097/01.NT.0000416339.28519.b6.
- ↑ Sreedharan, J.; Blair, I. P.; Tripathi, V. B.; Hu, X.; Vance, C.; Rogelj, B.; Ackerley, S.; Durnall, J. C.; Williams, K. L.; Buratti, E.; Baralle, F.; de Belleroche, J.; Mitchell, J. D.; Leigh, P. N.; Al-Chalabi, A.; Miller, C. C.; Nicholson, G.; Shaw, C. E. (21 March 2008). "TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis". Science. 319 (5870): 1668–1672. doi:10.1126/science.1154584. PMC 7116650 . PMID 18309045. S2CID 28744172.
- ↑ "Breakthrough in the study of motor neurone disease". The Independent. Retrieved 8 April 2016.
- ↑ Vance, C.; Rogelj, B.; Hortobagyi, T.; De Vos, K. J.; Nishimura, A. L.; Sreedharan, J.; Hu, X.; Smith, B.; Ruddy, D.; Wright, P.; Ganesalingam, J.; Williams, K. L.; Tripathi, V.; Al-Saraj, S.; Al-Chalabi, A.; Leigh, P. N.; Blair, I. P.; Nicholson, G.; de Belleroche, J.; Gallo, J.-M.; Miller, C. C.; Shaw, C. E. (27 February 2009). "Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6". Science. 323 (5918): 1208–1211. doi:10.1126/science.1165942. PMC 4516382 . PMID 19251628.
- ↑ "Motor neurone disease 'gene clue'". BBC. 28 February 2009. Retrieved 8 April 2016.
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