Related Research Articles
Lambert–Eaton myasthenic syndrome (LEMS) is a rare autoimmune disorder characterized by muscle weakness of the limbs.
Myasthenia gravis (MG) is a long-term neuromuscular junction disease that leads to varying degrees of skeletal muscle weakness. The most commonly affected muscles are those of the eyes, face, and swallowing. It can result in double vision, drooping eyelids, trouble talking, and trouble walking. Onset can be sudden. Those affected often have a large thymus or develop a thymoma.
Neuromyotonia (NMT) is a form of peripheral nerve hyperexcitability that causes spontaneous muscular activity resulting from repetitive motor unit action potentials of peripheral origin. NMT along with Morvan's syndrome are the most severe types in the Peripheral Nerve Hyperexciteability spectrum. Example of two more common and less severe syndromes in the spectrum are Cramp Fasciculation Syndrome and Benign Fasciculation Syndrome. NMT can have both hereditary and acquired forms. The prevalence of NMT is unknown.
An acetylcholine receptor is an integral membrane protein that responds to the binding of acetylcholine, a neurotransmitter.
A neuromuscular junction is a chemical synapse between a motor neuron and a muscle fiber.
End plate potentials (EPPs) are the voltages which cause depolarization of skeletal muscle fibers caused by neurotransmitters binding to the postsynaptic membrane in the neuromuscular junction. They are called "end plates" because the postsynaptic terminals of muscle fibers have a large, saucer-like appearance. When an action potential reaches the axon terminal of a motor neuron, vesicles carrying neurotransmitters are exocytosed and the contents are released into the neuromuscular junction. These neurotransmitters bind to receptors on the postsynaptic membrane and lead to its depolarization. In the absence of an action potential, acetylcholine vesicles spontaneously leak into the neuromuscular junction and cause very small depolarizations in the postsynaptic membrane. This small response (~0.4mV) is called a miniature end plate potential (MEPP) and is generated by one acetylcholine-containing vesicle. It represents the smallest possible depolarization which can be induced in a muscle.
Ocular myasthenia gravis (MG) is a disease of the neuromuscular junction resulting in hallmark variability in muscle weakness and fatigability. MG is an autoimmune disease where anomalous antibodies are produced against the naturally occurring acetylcholine receptors in voluntary muscles. MG may be limited to the muscles of the eye, leading to abrupt onset of weakness/fatigability of the eyelids or eye movement. MG may also involve other muscle groups.
MuSK is a receptor tyrosine kinase required for the formation and maintenance of the neuromuscular junction. It is activated by a nerve-derived proteoglycan called agrin, which is similarly also required for neuromuscular junction formation.
A neuromuscular disease is any disease affecting the peripheral nervous system (PNS), the neuromuscular junction, or skeletal muscle, all of which are components of the motor unit. Damage to any of these structures can cause muscle atrophy and weakness. Issues with sensation can also occur.
Dok-7 is a non-catalytic cytoplasmic adaptor protein that is expressed specifically in muscle and is essential for the formation of neuromuscular synapses. Further, Dok-7 contains pleckstrin homology (PH) and phosphotyrosine-binding (PTB) domains that are critical for Dok-7 function. Finally, mutations in Dok-7 are commonly found in patients with limb-girdle congenital myasthenia.
Congenital myasthenic syndrome (CMS) is an inherited neuromuscular disorder caused by defects of several types at the neuromuscular junction. The effects of the disease are similar to Lambert-Eaton Syndrome and myasthenia gravis, the difference being that CMS is not an autoimmune disorder. There are only 600 known family cases of this disorder and it is estimated that its overall frequency in the human population is 1 in 200,000.
John Michael Newsom-Davis was a neurologist who played an important role in the discovery of the causes of, and treatments for, Myasthenia gravis, and of other diseases of the nerve-muscle junction, notably Lambert–Eaton myasthenic syndrome and acquired neuromyotonia. Regarded as "one of the most distinguished clinical neurologists and medical scientists of his generation," he died in a car accident in Adjud, Romania, having visited a neurological clinic in Bucharest earlier the same day.
Neuronal acetylcholine receptor subunit alpha-1, also known as nAChRα1, is a protein that in humans is encoded by the CHRNA1 gene. The protein encoded by this gene is a subunit of certain nicotinic acetylcholine receptors (nAchR).
Neuromuscular junction disease is a medical condition where the normal conduction through the neuromuscular junction fails to function correctly.
Ricardo Miledi was a Mexican neuroscientist known for his work deciphering the role of calcium in neurotransmitter release. He also helped to develop a technique for studying native receptors in frog oocytes for drug development.
Ian Kirkland Hart FRCP was a lecturer and consultant in neurology at the Walton Centre in Liverpool. He ran a clinic for neurological paraneoplastic syndromes, myasthenia gravis, neuromyotonia, Lambert–Eaton myasthenic syndrome and autoimmune encephalitis. He was also the founder member of the Walton Centre Clinical Neuroimmunology Group researching on autoantibody-associated neurological diseases.
Dimitri Michael Kullmann is a professor of neurology at the UCL Institute of Neurology, University College London (UCL), and leads the synaptopathies initiative funded by the Wellcome Trust. Kullmann is a member of the Queen Square Institute of Neurology Department of Clinical and Experimental Epilepsy and a consultant neurologist at the National Hospital for Neurology and Neurosurgery.
(Edith) Yvonne Jones is director of the Cancer Research UK Receptor Structure Research Group at the University of Oxford and a Fellow of Jesus College, Oxford. She is widely known for her research on the molecular biology of cell surface receptors and signalling complexes.
The MRC Weatherall Institute of Molecular Medicine at the University of Oxford is a research institute located at the John Radcliffe Hospital in Oxford. Founded in 1989 by Sir David Weatherall, the institute focuses on furthering our understanding of clinical medicine at a molecular level. It was one of the first institutes of its kind in the world to be dedicated to research in this area.
Daniel B. Drachman (1932-2022) is an American neurologist. He is one of the founding members of the Johns Hopkins University's Department of Neurology.
References
- 1 2 3 "VINCENT, Prof. Angela Carmen" . Who's Who . Vol. 2017 (online Oxford University Press ed.). Oxford: A & C Black.(Subscription or UK public library membership required.)
- ↑ "Angela Vincent – Neuroscience (archived copy)". www.neuroscience.ox.ac.uk. Archived from the original on 7 January 2011. Retrieved 16 May 2023.
- ↑ "Angela Vincent Clinical and Experimental Neuroimmunology (archived copy)". www.imm.ox.ac.uk. Archived from the original on 2 May 2008. Retrieved 16 May 2023.
- ↑ Hoch, Werner; McConville, John; Helms, Sigrun; Newsom-Davis, John; Melms, Arthur; Vincent, Angela (2001). "Auto-antibodies to the receptor tyrosine kinase MuSK in patients with myasthenia gravis without acetylcholine receptor antibodies". Nature Medicine . 7 (3): 365–368. doi:10.1038/85520. ISSN 1546-170X. PMID 11231638. S2CID 18641849.
- ↑ "Angela Vincent". www.imm.ox.ac.uk. Retrieved 16 May 2023.
- ↑ "The Second Leslie Oliver Oration". Archived from the original on 31 July 2012. Retrieved 1 July 2010.
- ↑ "Prizes awarded by the British Neuroscience Association | The British Neuroscience Association". www.bna.org.uk. Retrieved 29 April 2021.
- ↑ The Academy of Medical Sciences, archived from the original on 6 July 2021, retrieved 6 July 2021
- ↑ The Royal Society, archived from the original on 24 October 2019, retrieved 6 July 2021
This article incorporates text available under the CC BY 4.0 license.
| International | |
|---|---|
| National | |
| Academics | |
| Other | |
