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.
Adrenoleukodystrophy (ALD) is a disease linked to the X chromosome. It is a result of fatty acid buildup caused by failure of peroxisomal fatty acid beta oxidation which results in the accumulation of very long chain fatty acids in tissues throughout the body. The most severely affected tissues are the myelin in the central nervous system, the adrenal cortex, and the Leydig cells in the testes. The long chain fatty acid buildup causes damage to the myelin sheath of the neurons of the brain, resulting in seizures and hyperactivity. Other symptoms include problems in speaking, listening, and understanding verbal instructions.
Trigeminal neuralgia, also called Fothergill disease, tic douloureux, or trifacial neuralgia is a long-term pain disorder that affects the trigeminal nerve, the nerve responsible for sensation in the face and motor functions such as biting and chewing. It is a form of neuropathic pain. There are two main types: typical and atypical trigeminal neuralgia. The typical form results in episodes of severe, sudden, shock-like pain in one side of the face that lasts for seconds to a few minutes. Groups of these episodes can occur over a few hours. The atypical form results in a constant burning pain that is less severe. Episodes may be triggered by any touch to the face. Both forms may occur in the same person. It is regarded as one of the most painful disorders known to medicine, and often results in depression.
Lorenzo's Oil is a 1992 American drama film directed and co-written by George Miller. It is based on the true story of Augusto and Michaela Odone, parents who search for a cure for their son Lorenzo's adrenoleukodystrophy (ALD), leading to the development of Lorenzo's oil. The film was shot in Pittsburgh, Pennsylvania, primarily from September 1991 to February 1992. It had a limited release in North America on December 30, 1992, with a nationwide release two weeks later, on January 15, 1993. Though it was a box office disappointment, grossing $7.2 million against its $30 million budget, the film was generally well received by the critics and garnered two nominations at the 65th Academy Awards.
Radiosurgery is surgery using radiation, that is, the destruction of precisely selected areas of tissue using ionizing radiation rather than excision with a blade. Like other forms of radiation therapy, it is usually used to treat cancer. Radiosurgery was originally defined by the Swedish neurosurgeon Lars Leksell as "a single high dose fraction of radiation, stereotactically directed to an intracranial region of interest".
Zellweger syndrome is a rare congenital disorder characterized by the reduction or absence of functional peroxisomes in the cells of an individual. It is one of a family of disorders called Zellweger spectrum disorders which are leukodystrophies. Zellweger syndrome is named after Hans Zellweger (1909–1990), a Swiss-American pediatrician, a professor of pediatrics and genetics at the University of Iowa who researched this disorder.
Leukodystrophies are a group of, usually, inherited disorders, characterized by degeneration of the white matter in the brain. The word leukodystrophy comes from the Greek roots leuko, "white", dys, "abnormal" and troph, "growth". The leukodystrophies are caused by imperfect growth or development of the glial cells which produce the myelin sheath, the fatty insulating covering around nerve fibers. Leukodystrophies may be classified as hypomyelinating or demyelinating diseases, respectively, depending on whether the damage is present before birth or occurs after. Other demyelinating diseases are usually not congenital and have a toxic or autoimmune cause.
Walter Edward Dandy was an American neurosurgeon and scientist. He is considered one of the founding fathers of neurosurgery, along with Victor Horsley (1857–1916) and Harvey Cushing (1869–1939). Dandy is credited with numerous neurosurgical discoveries and innovations, including the description of the circulation of cerebrospinal fluid in the brain, surgical treatment of hydrocephalus, the invention of air ventriculography and pneumoencephalography, the description of brain endoscopy, the establishment of the first intensive care unit, and the first clipping of an intracranial aneurysm, which marked the birth of cerebrovascular neurosurgery.
Multiple sclerosis can cause a variety of symptoms: changes in sensation (hypoesthesia), muscle weakness, abnormal muscle spasms, or difficulty moving; difficulties with coordination and balance; problems in speech (dysarthria) or swallowing (dysphagia), visual problems, fatigue and acute or chronic pain syndromes, bladder and bowel difficulties, cognitive impairment, or emotional symptomatology. The main clinical measure in progression of the disability and severity of the symptoms is the Expanded Disability Status Scale or EDSS.
Atypical trigeminal neuralgia (ATN), or type 2 trigeminal neuralgia, is a form of trigeminal neuralgia, a disorder of the fifth cranial nerve. This form of nerve pain is difficult to diagnose, as it is rare and the symptoms overlap with several other disorders. The symptoms can occur in addition to having migraine headache, or can be mistaken for migraine alone, or dental problems such as temporomandibular joint disorder or musculoskeletal issues. ATN can have a wide range of symptoms and the pain can fluctuate in intensity from mild aching to a crushing or burning sensation, and also to the extreme pain experienced with the more common trigeminal neuralgia.
Neuralgia-inducing cavitational osteonecrosis (NICO) is a diagnosis whereby a putative jawbone cavitation causes chronic facial neuralgia; this is different from osteonecrosis of the jaw. In NICO the pain is said to result from the degenerating nerve ("neuralagia"). The condition is probably rare, if it does exist.
Hugo Wolfgang Moser (1924–2007) was a Swiss-born American research scientist and director of the Neurogenetics Research Center at the Kennedy Krieger Institute. Moser was also University Professor of Neurology and Pediatrics at Johns Hopkins University. His research on peroxisomal disorders achieved international recognition.
The National Fibromyalgia Association (NFA) is a nonprofit organization whose purpose is to help improve the quality of life for people living with fibromyalgia (FM) and other chronic pain conditions. The NFA has worked to build international awareness of this chronic pain disorder, provide patient assistance and support, educate the medical community, facilitate and implement research, and build collaboration between the patient, health care providers and scientific communities.
Joshua B. Bederson is an American neurosurgeon, Leonard I. Malis, MD/Corinne and Joseph Graber Professor of Neurosurgery, and Chair of Neurosurgery at the Mount Sinai Health System in New York City. He is a Fellow of the American College of Surgeons and an attending neurosurgeon at The Mount Sinai Hospital and Elmhurst Hospital in Elmhurst, Queens.
The Kennedy Krieger Institute is a nonprofit, 501(c)(3) tax-exempt, Johns Hopkins affiliate located in Baltimore, Maryland, that provides in-patient and out-patient medical care, community services, and school-based programs for children and adolescents with learning disabilities, as well as disorders of the brain, spinal cord, and musculoskeletal system. The Institute provides services for children with developmental concerns mild to severe and is involved in research of various disorders, including new interventions and earlier diagnosis.
The trigeminal artery is an artery that supplies the basilar artery with blood during human embryonic development. Normally, the trigeminal artery involutes after the formation of the posterior communicating artery. However, in some cases, the artery persists into adulthood and can cause medical complications, including intracranial aneurysms.
Gómez–López-Hernández syndrome (GLH) or cerebellotrigeminal-dermal dysplasia is a rare neurocutaneous (Phakomatosis) disorder affecting the trigeminal nerve and causing several other neural and physical abnormalities. Gómez–López-Hernández syndrome has been diagnosed in only 34 people. Cases of Gómez–López-Hernández syndrome may be under-reported as other diseases share the characteristics of cerebellar malformation shown in Gómez–López-Hernández syndrome. Gómez–López-Hernández syndrome was first characterized in 1979.
Konstantin Slavin is a Professor and Head of the Department of Stereotactic and functional neurosurgery at the University of Illinois College of Medicine. He is a former president of the American Society for Stereotactic and functional neurosurgery and current vice-president of the World Society for Stereotactic and Functional Neurosurgery. His specialties include Aneurysm, Brain surgery, Brain Tumor, Cerebrovascular Disorders, Craniotomy, Dystonia, Essential Tremor, Facial Nerve Pain, Facial Pain, Glioblastoma, Headache disorders, Laminectomy, Lower back pain, Movement Disorders, Multiple Sclerosis, Neck Pain, Neurosurgery, Neurosurgical Procedures, Pain, Parkinson Disease, Spinal Cord Injuries, and Stroke.
Elivaldogene autotemcel, sold under the brand name Skysona, is a gene therapy used to treat cerebral adrenoleukodystrophy (CALD). It was developed by Bluebird bio and was given breakthrough therapy designation by the U.S. Food and Drug Administration in May 2018.
