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Ataxia is a neurological sign consisting of lack of voluntary coordination of muscle movements that can include gait abnormality, speech changes, and abnormalities in eye movements, that indicates dysfunction of parts of the nervous system that coordinate movement, such as the cerebellum.
An arteriovenous malformation (AVM) is an abnormal connection between arteries and veins, bypassing the capillary system. Usually congenital, this vascular anomaly is widely known because of its occurrence in the central nervous system, but can appear anywhere in the body. The symptoms of AVMs can range from none at all to intense pain or bleeding, and they can lead to other serious medical problems.
Parkinsonism is a clinical syndrome characterized by tremor, bradykinesia, rigidity, and postural instability. Both hypokinetic as well as hyperkinetic features are displayed by Parkinsonism. These are the four motor symptoms found in Parkinson's disease (PD) – after which it is named – dementia with Lewy bodies (DLB), Parkinson's disease dementia (PDD), and many other conditions. This set of symptoms occurs in a wide range of conditions and may have many causes, including neurodegenerative conditions, drugs, toxins, metabolic diseases, and neurological conditions other than PD.
Hereditary spastic paraplegia (HSP) is a group of inherited diseases whose main feature is a progressive gait disorder. The disease presents with progressive stiffness (spasticity) and contraction in the lower limbs. HSP is also known as hereditary spastic paraparesis, familial spastic paraplegia, French settlement disease, Strumpell disease, or Strumpell-Lorrain disease. The symptoms are a result of dysfunction of long axons in the spinal cord. The affected cells are the primary motor neurons; therefore, the disease is an upper motor neuron disease. HSP is not a form of cerebral palsy even though it physically may appear and behave much the same as spastic diplegia. The origin of HSP is different from cerebral palsy. Despite this, some of the same anti-spasticity medications used in spastic cerebral palsy are sometimes used to treat HSP symptoms.
Occipital horn syndrome (OHS), formerly considered a variant of Ehlers–Danlos syndrome, is an X-linked recessive mitochondrial and connective tissue disorder. It is caused by a deficiency in the transport of the essential mineral copper, associated with mutations in the ATP7A gene.
Dystonia is a neurological hyperkinetic movement disorder in which sustained or repetitive muscle contractions occur involuntarily, resulting in twisting and repetitive movements or abnormal fixed postures. The movements may resemble a tremor. Dystonia is often intensified or exacerbated by physical activity, and symptoms may progress into adjacent muscles.
Polyneuropathy is damage or disease affecting peripheral nerves in roughly the same areas on both sides of the body, featuring weakness, numbness, and burning pain. It usually begins in the hands and feet and may progress to the arms and legs and sometimes to other parts of the body where it may affect the autonomic nervous system. It may be acute or chronic. A number of different disorders may cause polyneuropathy, including diabetes and some types of Guillain–Barré syndrome.
Chorea is an abnormal involuntary movement disorder, characterized by quick movements of the hands or feet. It is one of a group of neurological disorders called dyskinesias. The term chorea is derived from the Ancient Greek: χορεία, as the movements of the body is comparable to dancing.
Chorea-acanthocytosis is a rare hereditary disease caused by a mutation in a gene that directs structural proteins in red blood cells. It belongs to a group of four diseases characterized under the name neuroacanthocytosis. When a patient's blood is viewed under a microscope, some of the red blood cells appear thorny. These thorny cells are called acanthocytes.
Acanthocyte, in biology and medicine, refers to an abnormal form of red blood cell that has a spiked cell membrane, due to thorny projections. A similar term is spur cells. Often they may be confused with echinocytes or schistocytes.
Neuroacanthocytosis is a label applied to several genetic neurological conditions in which the blood contains misshapen, spiculated red blood cells called acanthocytes.
Macdonald Critchley CBE was a British neurologist. He was former president of the World Federation of Neurology, and the author of over 200 published articles on neurology and 20 books, including The Parietal Lobes (1953), Aphasiology, and biographies of James Parkinson and Sir William Gowers.
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.
XK is a protein found on human red blood cells and other tissues which is responsible for the Kx antigen which helps determine a person's blood type.
McLeod syndrome is an X-linked recessive genetic disorder that may affect the blood, brain, peripheral nerves, muscle, and heart. It is caused by a variety of recessively inherited mutations in the XK gene on the X chromosome. The gene is responsible for producing the Kx protein, a secondary supportive protein for the Kell antigen on the red blood cell surface.
Dejerine–Sottas disease, also known as, Dejerine–Sottas syndrome, hereditary motor and sensory polyneuropathy type III, and Charcot–Marie–Tooth disease type 3, is a hereditary neurological disorder characterized by damage to the peripheral nerves, demyelination, and resulting progressive muscle wasting and somatosensory loss. The condition is caused by mutations in various genes and currently has no known cure.
Chorea gravidarum is a rare type of chorea which presents with involuntary abnormal movement, characterized by abrupt, brief, nonrhythmic, nonrepetitive movement of any limb, often associated with nonpatterned facial grimaces. It is a complication of pregnancy which can be associated with eclampsia and its effects upon the basal ganglia. It is not a causal or pathologically distinct entity but a generic term for chorea of any cause starting during pregnancy. It is associated with history of Sydenham's chorea. It mostly occurs in young patients; the average age is 22 years.
Sandifer syndrome is an eponymous paediatric medical disorder, characterised by gastrointestinal symptoms and associated neurological features. There is a significant correlation between the syndrome and gastro-oesophageal reflux disease (GORD); however, it is estimated to occur in less than 1% of children with reflux.
Raymond Delacy Adams was an American neurologist, neuropathologist, Bullard Professor of Neuropathology at Harvard Medical School and chief of neurology at Massachusetts General Hospital. Along with neurologist Maurice Victor, Adams was the author of Adams and Victor's Principles of Neurology, the 12th edition of which appeared, 50 years after the original.
Hereditary neurocutaneous angioma is a rare genetic disorder characterized by the appearance of angiomas on cutaneous and neurological areas of the body in multiple members of a single family.
References
- ↑ Levine, I. M. (1964). "A Hereditary Neurological Disease with Acanthocytosis." Neurology, 16(3), 272. Cleveland, Ohio.
- ↑ Levine, Irving M.; Estes, J. Worth; Looney, Joseph M. (1968-10-01). "Hereditary Neurological Disease With Acanthocytosis: A New Syndrome". Archives of Neurology. 19 (4): 403–409. doi:10.1001/archneur.1968.00480040069007. ISSN 0003-9942. PMID 5677189.
- ↑ "With the Vets". Poughkeepsie Journal. 7 July 1963. Retrieved 6 November 2022.
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