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Lambert–Eaton myasthenic syndrome (LEMS) is a rare autoimmune disorder characterized by muscle weakness of the limbs. It is also known as myasthenic syndrome, Eaton–Lambert syndrome, and when related to cancer, carcinomatous myopathy.
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, and difficulties in talking and 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 (non-inherited) forms. The prevalence of NMT is unknown.
Edrophonium is a readily reversible acetylcholinesterase inhibitor. It prevents breakdown of the neurotransmitter acetylcholine and acts by competitively inhibiting the enzyme acetylcholinesterase, mainly at the neuromuscular junction. It is sold under the trade names Tensilon and Enlon.
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 junctions, or skeletal muscles, 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.
Paraneoplastic cerebellar degeneration (PCD) is a paraneoplastic syndrome associated with a broad variety of tumors including lung cancer, ovarian cancer, breast cancer, Hodgkin’s lymphoma and others. PCD is a rare condition that occurs in less than 1% of cancer patients.
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.
Autoimmune autonomic ganglionopathy is a type of immune-mediated autonomic failure that is associated with antibodies against the ganglionic nicotinic acetylcholine receptor present in sympathetic, parasympathetic, and enteric ganglia. Typical symptoms include gastrointestinal dysmotility, orthostatic hypotension, and tonic pupils. Many cases have a sudden onset, but others worsen over time, resembling degenerative forms of autonomic dysfunction. For milder cases, supportive treatment is used to manage symptoms. Plasma exchange, intravenous immunoglobulin, corticosteroids, or immunosuppression have been used successfully to treat more severe cases.
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 was an American neurologist. He is one of the founding members of the Johns Hopkins University's Department of Neurology.
Transient neonatal myasthenia gravis, i.e., TNMG, and its more severe form, fetal acetylcholine receptor inactivation syndrome, is one of the various types of myasthenia gravis. MG is an autoimmune disease in which individuals form antibodies that circulate in their blood, enter tissues, bind to certain proteins in the neuromuscular junctions of skeletal muscles, and thereby reduce the number or ability of these skeletal muscles to contract when appropriately stimulated by acetylcholine. The affected skeletal muscles are easily fatigable, i.e., weakened after relatively little use. There are at least 3 types of antibodies that are known to cause the non-FARIS form of TNMG: antibodies binding to the adult form of the nicotinic acetylcholine receptor, i.e., adult nAChR, are responsible for most cases of non-FARIS MG while antibodies binding to two proteins near these nAChRs, i.e., the MuSK protein and low-density lipoprotein receptor-related protein 4 are responsible for many of the remaining non-FARIS TNMG cases. Studies suggest that antibodies directed against another protein near the nAChRs receptor, i.e., agrin, may be responsible for rare cases of non-FARIS MG. Antibodies directed at the fetal form of nAChRs are responsible for all cases of the FARIS form of TNMT.
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.
- ↑ "Angela Vincent". Nuffield Department of Clinical Neurosciences.
- ↑ 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
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