Synonyms for cadasil or Related words with cadasil

lissencephaly              progeria              ibmpfd              acanthocytosis              sclerosteosis              autosomaldominant              nonsyndromic              atransferrinemia              bfnc              marfan              macrocephaly              heterotaxy              laminopathies              legius              keutel              ciliopathy              progeroid              achromatopsia              fxtas              lafora              sottas              cherubism              pachygyria              scapuloperoneal              aceruloplasminemia              nephronophthisis              congential              hydrocephaly              dyskeratosis              nonfamilial              ftld              hyperlysinemia              arpkd              polymicrogyria              paroxytic              cylindromatosis              fsgs              synpolydactyly              kuzniecky              autosomalrecessive              adpkd              spondylocostal              edmd              adhr              hyperinsulinism              desmosterolosis              hypermethioninemia              dravet              meige              odontologic             



Examples of "cadasil"
No specific treatment for CADASIL is available. While most treatments for CADASIL patients' symptoms - including migraine and stroke - are similar to those without CADASIL, these treatments are almost exclusively empiric, as data regarding their benefit to CADASIL patients is limited. Antiplatelet agents such as aspirin, dipyridamole, or clopidogrel might help prevent strokes; however, anticoagulation may be inadvisable given the propensity for microhemorrhages. Control of high blood pressure is particularly important in CADASIL patients. Short-term use of atorvastatin, a statin-type cholesterol-lowering medication, has not been shown to be beneficial in CADASIL patients' cerebral hemodynamic parameters, although treatment of comorbidities such as high cholesterol is recommended. Stopping oral contraceptive pills may be recommended Some authors advise against the use of triptan medications for migraine treatment, their vasoconstrictive effects, although this sentiment is not universal. As with other individuals, people with CADASIL should be encouraged to quit smoking.
This classification is diffuse sometimes. For example CADASIL is at the same time hereditary and hypoxic.
Balo lesions have been reported alone, but also associated to standard multiple sclerosis, neuromyelitis optica, CADASIL and progressive multifocal leukoencephalopathy
Administering tPA following onset of stroke is not advised for CADASIL patients, due to increased risk of microhemorrhages.
L-arginine, a naturally occurring amino acid, has been proposed as a potential therapy for CADASIL, but as of 2017 there is no clinical data to support its use. Aricept, normally used for Alzheimer's Disease, was not shown not to improve executive functioning in CADASIL patients.
Recent research into the illness of philosopher Friedrich Nietzsche has suggested that his mental illness and death may have been caused by CADASIL rather than tertiary syphilis. Likewise, the early death of the composer Felix Mendelssohn, at age 37, from a stroke has been potentially linked to CADASIL. His sister, Fanny Mendelssohn, was similarly affected.
CADASIL, an identified autosomal dominant condition characterized by the recurrence of subcortical infarcts leading to dementia, was previously mapped to “ILVBL” gene within a 2-cM interval, D19S226–D19S199. No recombination event was observed with D19S841, a highly polymorphic microsatellite marker isolated from a cosmid mapped to this region. No mutation was detected on this gene in CADASIL patients, suggesting that it is not implicated in this disorder.
CADASIL may start with attacks of migraine with aura or subcortical transient ischemic attacks or strokes, or mood disorders between 35 and 55 years of age. The disease progresses to subcortical dementia associated with pseudobulbar palsy and urinary incontinence.
Ischemic strokes are the most frequent presentation of CADASIL, with approximately 85% of symptomatic individuals developing transient ischemic attacks or stroke(s). The mean age of onset of ischemic episodes is approximately 46 years (range 30–70). A classic lacunar syndrome occurs in at least two-thirds of affected patients while hemispheric strokes are much less common. It is worthy of note that ischemic strokes typically occur in the absence of traditional cardiovascular risk factors. Recurrent silent strokes, with or without clinical strokes, often lead to cognitive decline and overt subcortical dementia. A case of CADASIL presenting as schizophreniform organic psychosis has been reported.
CADASIL syndrome (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy syndrome) is a hereditary stroke condition due to a Notch 3 gene mutation on Chromosome 19. Studies have noted that in comparison to family members lacking the affected haplotype that leads to the condition, an increased number of dilated spaces is observed in individuals with CADASIL. These perivascular spaces are localized primarily in the putamen and temporal subcortical white matter and they appear to correlate with age of the individual with the condition rather than severity of the disease itself.
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 a Turkish family with Alzheimer's disease. Adult Notch3 knock-out mice show incomplete neuronal maturation in the spinal cord dorsal horn, resulting in permanently increased nociceptive sensitivity.
Ankyrin-repeat proteins have been associated with a number of human diseases. These proteins include the cell cycle inhibitor p16, which is associated with cancer, and the Notch protein (a key component of cell signalling pathways) which can cause the neurological disorder CADASIL when the repeat domain is disrupted by mutations.
Notch signaling is dysregulated in many cancers, and faulty notch signaling is implicated in many diseases including T-ALL (T-cell acute lymphoblastic leukemia), CADASIL (Cerebral Autosomal-Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy), Multiple Sclerosis (MS), Tetralogy of Fallot, Alagille syndrome, and many other disease states.
The underlying pathology of CADASIL is progressive degeneration of the smooth muscle cells in blood vessels. Mutations in the "Notch 3" gene (on the short arm of chromosome 19) cause an abnormal accumulation of Notch 3 at the cytoplasmic membrane of vascular smooth-muscle cells both in cerebral and extracerebral vessels, seen as granular osmiophilic deposits on electron microscopy.
The definitive test is sequencing the whole Notch 3 gene, which can be done from a sample of blood. However, as this is quite expensive and CADASIL is a systemic arteriopathy, evidence of the mutation can be found in small and medium-size arteries. Therefore, skin biopsies are often used for the diagnosis.
Single gene disorders that result in migraines are rare. One of these is known as familial hemiplegic migraine, a type of migraine with aura, which is inherited in an autosomal dominant fashion. Four genes have been shown to be involved in familial hemiplegic migraine. Three of these genes are involved in ion transport. The fourth is an axonal protein associated with the exocytosis complex. Another genetic disorder associated with migraine is CADASIL syndrome or cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
John Ruskin has been suggested to have suffered from CADASIL. Ruskin reported in his diaries having visual disturbances consistent with the disease, and it has also been suggested that it might have been a factor in causing him to describe James Whistler's "Nocturne in Black and Gold – The Falling Rocket" as "ask[ing] two hundred guineas for throwing a pot of paint in the public's face". This resulted in the famous libel trial that resulted in a jury's awarding Whistler one farthing damages.
China reports more patients with stroke than anywhere else in the world. While there is still a great deal of unknown information, stroke research has been making great progress in recent years, such as in the areas of clinical research, population and genetic epidemiology, brain ischemia/reperfusion exploring, leukoencephalopathy (CADASIL), neural stem cell and stroke, neuroprotective treatment for stroke, clinical therapy test in stroke, rehabilitation and prevention.
This is the life story of Spaniard Ramón Sampedro, who fought a 28-year campaign to win the right to end his own life with dignity. The film explores Ramón's relationships with two women: Julia, a lawyer suffering from Cadasil syndrome, who supports his cause, and Rosa, a local woman who wants to convince him that life is worth living. Through the gift of his love, these two women are inspired to accomplish things they never previously thought possible.
Note that not all encephalopathies are caused by prions, as in the cases of PML (caused by the JC virus), CADASIL (caused by abnormal NOTCH3 protein activity), and Krabbe disease (caused by a deficiency of the enzyme galactosylceramidase). Progressive Spongiform Leukoencephalopathy (PSL)—which is a spongiform encephalopathy—is also probably not caused by a prion, although the adulterant that causes it among heroin smokers has not yet been identified. This, combined with the highly variable nature of prion disease pathology, is why a prion disease cannot be diagnosed based solely on a patient's symptoms.