|
CADASIL
CADASIL or CADASIL syndrome, involving cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, is the most common form of hereditary stroke disorder, and is thought to be caused by mutations of the ''Notch 3'' gene on chromosome 19. The disease belongs to a family of disorders called the leukodystrophies. The most common clinical manifestations are migraine headaches and transient ischemic attacks or strokes, which usually occur between 40 and 50 years of age, although MRI is able to detect signs of the disease years prior to clinical manifestation of disease. The condition was identified and named by French researchers Marie-Germaine Bousser and Elisabeth Tournier-Lasserve in the 1990s. Together with two other researchers, Hugues Chabriat and Anne Joutel, they received the 2019 Brain Prize for their research into the condition. Signs and symptoms CADASIL may start with attacks of migraine with aura or subcortical transient ischemic attacks or ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CADASIL - Very High Mag
CADASIL or CADASIL syndrome, involving cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, is the most common form of hereditary stroke disorder, and is thought to be caused by mutations of the ''Notch 3'' gene on chromosome 19. The disease belongs to a family of disorders called the leukodystrophies. The most common clinical manifestations are migraine headaches and transient ischemic attacks or strokes, which usually occur between 40 and 50 years of age, although MRI is able to detect signs of the disease years prior to clinical manifestation of disease. The condition was identified and named by French researchers Marie-Germaine Bousser and Elisabeth Tournier-Lasserve in the 1990s. Together with two other researchers, Hugues Chabriat and Anne Joutel, they received the 2019 Brain Prize for their research into the condition. Signs and symptoms CADASIL may start with attacks of migraine with aura or subcortical transient ischemic attacks or ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Notch 3
Neurogenic locus notch homolog protein 3 (Notch 3) is a protein that in humans is encoded by the ''NOTCH3'' gene. Function This gene encodes the third discovered human homologue of the ''Drosophila melanogaster'' type I membrane protein notch. In ''Drosophila'', notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signalling pathway that plays a key role in neural development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human notch homologues remains to be determined. Pathology Mutations in NOTCH3 have been identified as the underlying cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Mutations in NOTCH3 have also been identified in families with Alzheimer's disease. Adult Notch3 knock-out mice show incomplete neuronal maturation in the spinal cord dorsal horn, resulting in permanently increased n ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Anne Joutel
Anne Joutel (born 1965) is a French neurologist and neuroscientist who is Research Director at the Institute of Psychiatry and Neurosciences of Paris. In 2019, together with three colleagues, she was awarded the Brain Prize, the largest prize awarded for brain research. Training Joutel was born on 20 March 1965. She became a Doctor of Medicine at the Paris Diderot University in France, with a specialisation in neurology. Between 1993 and 1998 she was in residence in university hospitals in Paris. She received a PhD in neuroscience, from the Pierre and Marie Curie University, now the Sorbonne University, in 1996. Career Joutel was appointed as a research officer at the '' Institut national de la santé et de la recherche médicale'' (French National Institute of Health and Medical Research - Inserm) in 1998. From 2000 she conducted research at the Lariboisière Hospital Faculty of Medicine, where she became the Director. She is currently the Research Director at the Institute o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Marie-Germaine Bousser
Marie-Germaine Bousser (born 11 August 1943) is a French neuroscientist. She won the Brain Prize in 2019 for her work on CADASIL. Biography Bousser graduated from Paris-Sorbonne University in neuro-psychiatry in 1972 with her thesis devoted to the prevention of cortical artery thrombosis in rabbits by aspirin and PGE1. She trained at the Pitié-Salpêtrière Hospital. Subsequently, she worked at the National Hospital for Neurology and Neurosurgery, before returning to Paris. She became a Professor of Neurology at Pitié-Salpêtrière Hospital in 1981. She became head of neurology at the Saint-Antoine Hospital in Paris in 1989, where she stayed until 1997. She returned to Pitié-Salpêtrière Hospital in 1997, becoming the head of neurology there. She later became Emeritus Professor at the Paris-Diderot University. Research Bousser is most well known for her role in the discovery of CADASIL, a hereditary form of stroke. She researched the, then unnamed, condition for the firs ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Elisabeth Tournier-Lasserve
Élisabeth Tournier-Lasserve (born 1954) is a French neurologist, medical geneticist, university professor and hospital practitioner in genetics. Together with three colleagues, she was the co-recipient of the Brain Prize in 2019, the world's largest brain research prize. Training Élisabeth Tournier-Lasserve was born on 7 October, 1954. She studied medicine, including neurology, at the Pitié-Salpêtrière Hospital, a teaching hospital of the Sorbonne University in the 13th arrondissement of Paris. After obtaining a doctorate in medicine in 1984, she worked at the Pitié-Salpêtrière Hospital for two years before doing post-doctoral work at the National Institutes of Health at Bethesda, Maryland, USA. Career In 1989, Tournier-Lasserve joined the '' Institut national de la santé et de la recherche médicale'' (Inserm), the French National Institute of Health and Medical Research, as a researcher. She then became research director at the Necker-Enfants Malades Hospital and, in 1 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pseudobulbar Palsy
Pseudobulbar palsy is a medical condition characterized by the inability to control facial movements (such as chewing and speaking) and caused by a variety of neurological disorders. Patients experience difficulty chewing and swallowing, have increased reflexes and spasticity in tongue and the bulbar region, and demonstrate slurred speech (which is often the initial presentation of the disorder), sometimes also demonstrating uncontrolled emotional outbursts. The condition is usually caused by the bilateral damage to corticobulbar pathways, which are upper motor neuron pathways that course from the cerebral cortex to nuclei of cranial nerves in the brain stem. Signs and symptoms Signs and symptoms of pseudobulbar palsy include: * Slow and indistinct speech * Dysphagia (difficulty in swallowing) * Small, stiff and spastic tongue * Brisk jaw jerk * Dysarthria * Labile affect * Gag reflex may be normal, exaggerated or absent * Examination may reveal upper motor neuron lesion of th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chromosome 19
Chromosome 19 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 19 spans more than 58.6 million base pairs, the building material of DNA. It is considered the most gene-rich chromosome containing roughly 1,500 genes, despite accounting for only 2 percent of the human genome. Genes Number of genes The following are some of the gene count estimates of human chromosome 19. Because researchers use different approaches to genome annotation, their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project ( CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes. Gene list The following is a partial list of genes on human chromosome 19. For complete list, see the link in the infobox on the right. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hyperintensities
A hyperintensity or T2 hyperintensity is an area of high intensity on types of magnetic resonance imaging (MRI) scans of the brain of a human or of another mammal that reflect lesions produced largely by demyelination and axonal loss. These small regions of high intensity are observed on T2 weighted MRI images (typically created using 3D FLAIR) within cerebral white matter (white matter lesions, white matter hyperintensities or WMH) or subcortical gray matter (gray matter hyperintensities or GMH). The volume and frequency is strongly associated with increasing age. They are also seen in a number of neurological disorders and psychiatric illnesses. For example, deep white matter hyperintensites are 2.5 to 3 times more likely to occur in bipolar disorder and major depressive disorder than control subjects. WMH volume, calculated as a potential diagnostic measure, has been shown to correlate to certain cognitive factors. Hyperintensities appear as "bright signals" (bright areas) ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Migraine
Migraine (, ) is a common neurological disorder characterized by recurrent headaches. Typically, the associated headache affects one side of the head, is pulsating in nature, may be moderate to severe in intensity, and could last from a few hours to three days. Non-headache symptoms may include nausea, vomiting, and photophobia, sensitivity to light, hyperacusis, sound, or Osmophobia, smell. The pain is generally made worse by physical activity during an attack,as PDF although regular physical exercise may prevent future attacks. Up to one-third of people affected have Aura (symptom), aura: typically, it is a short period of visual disturbance that signals that the headache will soon occur. Occasionally, aura can occur with little or no headache follow ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
The Brain Prize
The Brain Prize, formerly known as The Grete Lundbeck European Brain Research Prize, is an international scientific award honouring "one or more scientists who have distinguished themselves by an outstanding contribution to neuroscience and who are still active in research". Founded in 2011 by thLundbeck Foundation the prize is associated with a DKK 10 million award to the nominees, the world’s largest brain research prize. Nominees can be of any nationality. Prize winners are expected to interact with Danish brain researchers e.g. through lectures, master classes, seminars, exchange programmes for researchers or other activities agreed with and financially supported by the Lundbeck Foundation. History The Brain Prize was established by the Lundbeck Foundation in 2010 as a European prize and was awarded for the first time in 2011. Today the Prize is global. Selection committee As of 2019, the selection committee for the prize consisted of: * Richard G. Morris (chair) * Story Lan ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Aura (symptom)
An aura is a perceptual disturbance experienced by some with epilepsy or migraine. An epileptic aura is a seizure. Epileptic and migraine auras are due to the involvement of specific areas of the brain, which are those that determine the symptoms of the aura. Therefore, if the visual area is affected, the aura will consist of visual symptoms, while if a sensory one, then sensory symptoms will occur. Epileptic auras are subjective sensory or psychic phenomena due to a focal seizure, i.e. a seizure that originates from that area of the brain responsible for the function which then expresses itself with the symptoms of the aura. It is important because it makes it clear where the alteration causing the seizure is located. An epileptic aura is in most cases followed by other manifestations of a seizure, for example a convulsion, since the epileptic discharge spreads to other parts of the brain. Rarely it remains isolated. Auras, when they occur, allow some people who have epilepsy ti ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Leukoencephalopathy
Leukoencephalopathy (leukodystrophy-like diseases) is a term that describes all of the brain white matter diseases, whether their molecular cause is known or unknown. It can refer specifically to any of these diseases: * Progressive multifocal leukoencephalopathy *Toxic leukoencephalopathy *Leukoencephalopathy with vanishing white matter *Leukoencephalopathy with neuroaxonal spheroids *Reversible posterior leukoencephalopathy syndrome *Megalencephalic leukoencephalopathy with subcortical cysts. It can also refer to gene MLC1 or Megalencephalic leukoencephalopathy with subcortical cysts 1, a human gene related to the former disease. *Hypertensive leukoencephalopathy The classification of leukoencephalopathies is a matter of debate. Some authors divide leukoencephalopathies into hereditary disorders and acquired disorders. The hereditary demyelinating disorders are then classified according to the localization of the underlying metabolic defect, and they include the leukodystrophies w ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
_1.jpg "Click for more on -> Migraine")
