Presentation
See exactly how neurological disorders present with online videos of EEG and seizures, movement disorders, EMG, cranial neuropathies, disorders of upper and lower motor neurons. [books.google.de]
However, the skin biopsy performed on one of them did not reveal any GOM in the vascular smooth muscle cells, and the Notch3 mutation present in this family was shown to be absent in these two individuals. [ncbi.nlm.nih.gov]
In most patients, multiple lacunar infarcts are also present in the basal ganglia, thalami, and pons 3. [radiopaedia.org]
A clinical presentation as focal dystonia was also reported in a Chilean family (Miranda, 2006). [mdsabstracts.org]
Entire Body System
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Relapsing Polychondritis
Disseminated neocortical and subcortical encephalopathies Drug-induced vasculitis Endocardial fibroelastosis Henoch-Schönlein purpura (radiation, tumor) Kawasaki syndrome Köhlmeier-Degos disease Lupus anticoagulant Polyarteritis nodosa Primary CNS vasculitis Relapsing [neupsykey.com]
Urogenital
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Phenylketonuria
[…] neurodegeneration PKU see phenylketonuria Plumboporphyria see ALA deficiency porphyria PMA see Charcot-Marie-tooth disease Polycystic kidney disease P 16 ( PKD1 ) or 4 ( PKD2 ) polyostotic fibrous dysplasia see McCune–Albright syndrome 20 q13.2-13.3 [drpareshmajumder.com]
Neurologic
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Cranial Neuropathy
See exactly how neurological disorders present with online videos of EEG and seizures, movement disorders, EMG, cranial neuropathies, disorders of upper and lower motor neurons. [books.google.de]
Workup
Genetic testing for pathogenic mutations in the NOTCH3 gene is available for use in the diagnostic workup of individuals with a clinical history and symptoms suspicious for CADASIL syndrome. [unicare.com]
In these cases, vascular risk factors need to be aggressively controlled, but very little workup is obtained. [neuro-ophthalmology.stanford.edu]
Treatment
The first chapter stresses the etiology and pathophysiology of childhood stroke as the basis for evaluations and treatment. [books.google.de]
Access the comprehensive, expert clinical guidance you need to recognize the clinical manifestations of stroke, use the latest laboratory and imaging studies to arrive at a diagnosis, and generate an effective medical and surgical treatment plan. [books.google.com]
Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]
Treatment - CADASIL There is currently no treatment for CADASIL that is proven to be effective. While antiplatelet treatment is often used, it is also not proven to be useful. [checkorphan.org]
Prognosis
What is the prognosis of the ocular ischemic syndrome? The prognosis of the ocular ischemic syndrome is poor. Laser panphotocoagulation of the ischemic retina may reduce neovascularization as with proliferative diabetic retinopathy. 17. [neuro-ophthalmology.stanford.edu]
Prognosis - CADASIL Symptoms usually progress slowly. By age 65, the majority of persons with CADASIL have severe cognitive problems and dementia. Some people lose the ability to walk and most become completely dependent due to multiple strokes. [checkorphan.org]
Catching vascular dementia early and preventing further damage makes for a better prognosis. [onhealth.com]
Prognosis Mean age at death was 53.2 10.9 years for males and 59.3 8.8 years for females. [ 10 ] Prevention Prenatal testing is possible. [patient.info]
Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients. Brain. 2004 Nov;127(Pt 11):2533-9. Epub 2004 Sep 13. Rufa A, Guideri F, Acampa M, Cevenini G, Bianchi S, De Stefano N, Stromillo ML, Federico A, Dotti MT. [ghr.nlm.nih.gov]
Etiology
The first chapter stresses the etiology and pathophysiology of childhood stroke as the basis for evaluations and treatment. [books.google.de]
They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]
The demographic distribution, pathology, and presentation are heterogeneous depending on the etiology and will be dealt with under each vasculitis subtype. [radiologykey.com]
Epidemiology
Synonyms: C erebral A utosomal D ominant A rteriopathy with S ubcortical I nfarcts and L eucoencephalopathy (CADASIL), familial vascular leukoencephalopathy Epidemiology This is a rare familial form of multi-infarct dementia and other neurological problems [patient.info]
Epidemiology Frequency United States The incidenceand prevalence of CADASIL in the United States are not known. International The incidence and prevalence of CADASIL worldwide are not known. [emedicine.medscape.com]
Epidemiology Moyamoya can occur in both children and adults. The majority of cases present before the age of 20 years (70%) and half occur before the age of 10 years. 12 Children present with stroke symptoms and progressive neurologic impairment. [radiologykey.com]
"Molecular biology, epidemiology, and pathogenesis of progressive multifocal leukoencephalopathy, the JC virus-induced demyelinating disease of the human brain". Clin. Microbiol. Rev. 25 (3): 471–506. doi : 10.1128/CMR.05031-11. PMC 3416490. [en.wikipedia.org]
"White matter hyperintensities in the forties: their prevalence and topography in an epidemiological sample aged 44-48." Hum Brain Mapp 30(4): 1155-1167. Whitman GT and others. Neuropathology in older people with disequilibrium of unknown cause. [dizziness-and-balance.com]
Pathophysiology
Gain fresh perspectives and up-to-date insights from the world’s leading authorities on the pathophysiology, diagnosis, and management of stroke. [books.google.com]
The first chapter stresses the etiology and pathophysiology of childhood stroke as the basis for evaluations and treatment. [books.google.de]
The pathophysiology of this condition is related to abnormalities in blood flow of small vessels, especially those of the brain. CADASIL is an adult-onset disease, with the first signs typically presenting in the fourth decade of life. [cags.org.ae]
Ultimately, future studies should also explore the pathophysiological basis of RVCL-S, which is currently unclear and which might have implications for identifying targets not only for this disorder, but also other hereditary or sporadic small vessel [brain.oxfordjournals.org]
Prevention
Stay up to date on hot topics such as mechanisms of action of commonly used drugs, neuronal angiogenesis and stem cells, basic mechanisms of spasm and hemorrhage, prevention of stroke, genetics/predisposing risk factors, and much more. [books.google.com]
Migraine should be treated both symptomatically and prophylactically (with preventative methods), depending on the frequency of symptoms. [checkorphan.org]
Asprin is used in patients who have other risk factors for stroke such as diabetes and heart disease as a prophylactic (preventative) medication. [ulf.org]
Dementia Prevention Further research is still needed in order to determine if dementia can be prevented. In some people, moderating known risk factors for dementia may help prevent or delay the onset of the disease. [onhealth.com]