DiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPsychiatry and Psychology
CADASILDementia, Multi-InfarctReceptors, NotchMigraine with AuraDementia, VascularReceptors, Cell SurfaceMagnetic Resonance Imaging
Autosomal dominant arteriopathy with subcorticalDiagnosisStenosisSymptomsClinicalBilateralMigraineHypertensionPhenotypeSyndromeDementiaDiseaseCommonAurasHeadacheCasesExaminationFindingsBrainPainStudyNOTCH3Small-vessel diseaseMutationsMutation spectrumMultiple sclerosisAutosomal-dominantChronicClinical manifestationsInflammatoryGeneIschemicVascularApparentAcuteDisordersFamilyPreviousPresentGenerallyVolume
Autosomal dominant arteriopathy with subcortical2
  • Background: Cerebral autosomal dominant arteriopathy with subcortical infarctions and leukoencephalopathy (CADASIL) is the most common hereditary form of cerebral small vessel disease. (bvsalud.org)
  • Described by Joutel et al , 3 cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a Mendelian form of hereditary small-vessel disease and vascular dementia. (bmj.com)
Diagnosis9
  • Here we review single gene disorders that have the potential to mimic multiple sclerosis, provide an overview of clinical and investigational characteristics of each disorder, and present guidelines for when clinicians should suspect an underlying heritable disorder that requires diagnostic confirmation in a patient with a definite or probable diagnosis of multiple sclerosis. (medscape.com)
  • Early, accurate diagnosis is critical to effective patient management and counselling, but assignment of an incorrect diagnosis of multiple sclerosis remains a frequent concern. (medscape.com)
  • In the absence of pathognomonic clinical findings or a definitive laboratory test, the diagnosis of multiple sclerosis remains challenging in many patients, and diagnostic criteria emphasize the caveat of 'no better explanation' for a patient's clinical presentation and MRI findings. (medscape.com)
  • the authors suggested classifying the disease course into suspected, incomplete, and complete Susac syndrome to facilitate early diagnosis. (medlink.com)
  • 5 The prevalence of CADASIL is likely underestimated, as clinical suspicion along with laboratory diagnosis is required. (bmj.com)
  • Diagnosis is suspected clinically and confirmed by imaging (primarily. (msdmanuals.com)
  • The diagnosis of migraine is based on patient history. (medscape.com)
  • in the absence of focal symptoms and with clinically predominant intracranial hypertension syndrome accompanied by papilledema, the diagnosis of pseudotumor cerebri (benign intracranial hypertension) can be established only after careful exclusion of venous thrombosis! (stroke-manual.com)
  • This is not to be used for the assessment, diagnosis or management of patients. (abcmedicalnotes.com)
Stenosis1
  • Accumulation of granular osmiophilic material within the tunica media is pathophysiologically characteristic of CADASIL, ultimately leading to luminal stenosis in long penetrating arteries supplying subcortical white matter with consequent and expected reduction in cerebral blood flow. (bmj.com)
Symptoms1
  • Approximately 15% of patients follow a primary progressive or progressive relapsing course from disease onset, usually characterized by symptoms of progressive myelopathy (gait instability, spasticity, bladder symptoms) and cognitive impairment. (medscape.com)
Clinical5
  • The significant variants detected were reported along with the clinical and radiological features of the patients. (bvsalud.org)
  • CADASIL, which can result in mortality, has a heterogeneous phenotype among individuals in terms of clinical, demographic, and radiological findings regardless of the NOTCH3 variant. (bvsalud.org)
  • Several single gene disorders share clinical and radiologic characteristics with multiple sclerosis and have the potential to be overlooked in the differential diagnostic evaluation of both adult and paediatric patients with multiple sclerosis. (medscape.com)
  • Patients with multiple sclerosis are classified according to their clinical phenotype, with ~85% following a relapsing-remitting course (relapsing-remitting multiple sclerosis) characterized by recurrent, acute neurological deficits punctuating periods of latency or remission (Lublin and Reingold, 1996). (medscape.com)
  • These advances are at the cusp of making important changes to clinical practice of some monogenic forms of stroke and, in the future, are likely to revolutionise the care provided to these patients. (bmj.com)
Bilateral1
  • High risk for AKI and priority are those with pre-existing CKD or a single or transplanted kidney, or if bilateral obstructing stones are suspected. (abcmedicalnotes.com)
Migraine8
  • Patients can clinically present with disorders ranging from migraine with aura (20-40% of affected patients), ischaemic events (60-80%), dementia, seizures, 10 apathy and mood disturbances. (bmj.com)
  • White matter lesions (WML) are more frequently observed in migraine patients than in the average population. (biomedcentral.com)
  • Here, we aimed to investigate the association between H. pylori infection and WML in patients diagnosed with episodic migraine. (biomedcentral.com)
  • Evaluation was made among 526 migraine patients who met the inclusion criteria, comprising 397 (75.5%) females and 129 (24.5%) males with a mean age of 45.57 ± 13.46 years (range, 18-69 years). (biomedcentral.com)
  • One-third of migraine patients have an aura. (biomedcentral.com)
  • Although the exact pathophysiology of migraine has not been elucidated as yet, in patients with a genetic predisposition, exogenous and endogenous stimuli may trigger pain attacks [ 3 ]. (biomedcentral.com)
  • Neuroimaging is not necessary in patients with a history of recurrent migraine headaches and a normal neurologic examination. (medscape.com)
  • Don't perform neuroimaging studies in patients with stable headaches that meet criteria for migraine. (medscape.com)
Hypertension1
  • The demographic characteristics of the patients, such as age, gender and chronic systemic diseases such as hypertension and diabetes mellitus (DM) were recorded. (biomedcentral.com)
Phenotype1
  • Recognition of a single-gene disorder as causal for a patient's 'multiple sclerosis-like' phenotype is critically important for accurate direction of patient management, and evokes broader genetic counselling implications for affected families. (medscape.com)
Syndrome3
  • In partial or variant forms of this syndrome, only one or two of the three components are clinically manifest. (medlink.com)
  • Patients with traumatic brain injury, Down syndrome, and certain types of vascular disease are major patient groups that may or may not be included in these studies. (medilib.ir)
  • The remaining 45 percent of patients had the following etiologies: vascular-related cognitive change, alcohol-related cognitive change, Huntington disease (HD), cognitive impairment resulting from multiple sclerosis (MS), prion diseases, dementia related to Down syndrome (predominantly AD), and unknown/unclassified. (medilib.ir)
Dementia2
  • See "Management of the patient with dementia" . (medilib.ir)
  • An epidemiologic study in four London boroughs identified 185 patients with an onset of dementia between 30 to 64 years of age [ 2 ]. (medilib.ir)
Disease1
  • Persons not treated for persistent CSF abnormalities are at risk of developing clinically apparent disease and are hereafter referred to as having contracted neurosyphilis. (medscape.com)
Common1
  • Headache is one of the most common reasons patients seek medical. (msdmanuals.com)
Auras2
  • Auras occur in about 25% of patients, usually just before but sometimes after the headache. (msdmanuals.com)
  • This patient reported that these visual auras preceded her headache by 20-30 minutes. (medscape.com)
Headache1
  • Approach to the Patient With Headache Headache is pain in any part of the head, including the scalp, face (including the orbitotemporal area), and interior of the head. (msdmanuals.com)
Cases1
  • There are few prevalence studies, with one registry in Scotland, UK estimating prevalence rate of confirmed CADASIL cases of 1.98/100 000. (bmj.com)
Examination2
  • A careful dermatological examination is indicated as some patients may have prodromal livedo reticularis, livedo racemosa, or a diffuse faint micropapular eruption. (medlink.com)
  • Previous endoscopic gastric biopsy histopathological examination of the same patients and reports on H. pylori findings were recorded. (biomedcentral.com)
Findings1
  • We describe clinicopathologic findings of CBAs found in 12 patients out of over 2700 routine autopsies at a tertiary academic medical center. (nature.com)
Brain1
Pain1
  • Otherwise well patients can be managed as an outpatient if can eat and drink, pain is managed and renal function normal. (abcmedicalnotes.com)
Study1
  • Methods: In this study, we analyzed NOTCH3 in 368 patients with suspected CADASIL using next-generation sequencing. (bvsalud.org)
NOTCH314
  • Many CADASIL cases were reported after NOTCH3 was identified as the causative gene of CADASIL. (bvsalud.org)
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a condition caused by mutations in NOTCH3 and results in a phenotype characterised by recurrent strokes, vascular dementia and migraines. (bvsalud.org)
  • Studies conducted at the Genomics Research Centre (GRC) have also identified that only 15-23% of individuals clinically suspected of CADASIL have mutations in NOTCH3. (bvsalud.org)
  • OBJECTIVES: Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is the most common monogenic hereditary small cerebral vessel disease, which is caused by mutation of the neurogenic locus notch homolog protein 3 gene (NOTCH3). (bvsalud.org)
  • Our report broadens the mutation spectrum of the NOTCH3 gene in CADASIL. (bvsalud.org)
  • In CADASIL, the function of Notch3 receptor showed a consistent interplay with immune system activity. (fortuneonline.org)
  • However, even if it is not possible to determinate if the proinflammatory activity may be promoted by pathogenic mutations in Notch3, the 'apparent' difference between MS and "inflammatory CADASIL" could be considered more semantic than etiologic. (fortuneonline.org)
  • CADASIL is caused by pathogenic mutations in NOTCH3 gene, located on chromosome 19p13, which encodes a large single-pass transmembrane receptor expressed in vascular smooth muscle cells. (fortuneonline.org)
  • More than 200 different pathogenic mutations, localized throughout exons 2-24 of the NOTCH3 gene have been already described in CADASIL patients [1]. (fortuneonline.org)
  • In patients the Notch3 receptor extracellular domain has been demonstrated to accumulate in the vessel wall with a direct or indirect toxic effect on vascular smooth muscle cells, leading to degeneration [2]. (fortuneonline.org)
  • NOTCH3 has been identified as the causative gene of CADASIL. (nih.gov)
  • The aim of the study was to clarify genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients. (nih.gov)
  • Whole exome sequencing was performed to screen NOTCH3 mutations of these patients. (nih.gov)
  • This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in the NOTCH3 gene associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and other NOTCH3 -related disorders. (mayocliniclabs.com)
Small-vessel disease3
  • Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary cerebral small vessel disease in adults. (bvsalud.org)
  • Based on this, whole exome sequencing was used to identify novel genetic variants for CADASIL-like cerebral small-vessel disease (CSVD). (bvsalud.org)
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal-dominant, small-vessel disease, clinically characterized by transient ischemic attacks and/or strokes, migraine and cognitive impairment possibly leading to pseudobulbar paralysis and progressive dementia. (fortuneonline.org)
Mutations2
  • Further investigation of the genes in these processes was completed using the TRAPD software to identify if there is an increased number (burden) of mutations that are associated with CADASIL-like pathology. (bvsalud.org)
  • Testing for fragile X mutations should be considered in male and female patients, especially in those with a family history of ID. (basicmedicalkey.com)
Mutation spectrum1
  • 226 Japanese, and 196 Korean) and 546 Caucasian pedigrees, in a total of 1401 CADASIL pedigrees were involved in mapping mutation spectrum. (nih.gov)
Multiple sclerosis2
  • Although a relapsing-remitting course can be mimicked by, for example, various mitochondrial disorders (pyruvate dehydrogenase complex deficiency, Leigh disease, MELAS) Fabry disease, and X-linked Charcot-Marie-Tooth disease, awareness of these red flags is especially important for clinicians evaluating patients meeting criteria for (or carrying tentative diagnoses of) primary progressive multiple sclerosis, as most other heritable mimics of multiple sclerosis are more likely to exhibit a progressive disease course. (medscape.com)
  • In practice, many neurologists do not routinely evaluate CSF, although it is generally recognized that CSF evaluation remains an important aid in the confirmation of multiple sclerosis, especially in atypical patients. (medscape.com)
Autosomal-dominant1
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a monogenic autosome-dominant disease with chronic clinical course. (fortuneonline.org)
Chronic3
  • OnabotulinumtoxinA for treatment of chronic migraine: PREEMPT 24-week pooled subgroup analysis of patients who had acute headache medication overuse at baseline. (jefferson.edu)
  • Assessing clinically meaningful treatment effects in controlled trials: chronic migraine as an example. (jefferson.edu)
  • Per cent of patients with chronic migraine who responded per onabotulinumtoxinA treatment cycle: PREEMPT. (jefferson.edu)
Clinical manifestations1
  • MATERIALS AND METHODS: We present a patient with clinical manifestations, laboratory examination and imaging reveal suspicion of CADASIL. (bvsalud.org)
Inflammatory2
  • 2012) and patients with other disorders may have them, reflecting non-specific CSF inflammatory disease. (medscape.com)
  • Both patients were treated with anti-inflammatory and anti-platelet drugs, mostly with good response. (fortuneonline.org)
Gene1
  • Analysis of functionally important variants in 50 individuals was investigated using overrepresentation tests in Gene ontology software to identify biological processes that are potentially affected in this group of patients. (bvsalud.org)
Ischemic1
  • Although young patients who experience ischemic strokes have a low risk of stroke recurrence and myocardial infarction, some patients do not regain independence. (neurology.org)
Vascular1
  • This study identified a novel process that may be playing a role in the vascular damage related to CADASIL-related CSVD and implicated n = 15 genes in playing a role in the disease. (bvsalud.org)
Apparent1
  • Persons not treated for persistent CSF abnormalities are at risk of developing clinically apparent disease and are hereafter referred to as having contracted neurosyphilis. (medscape.com)
Acute1
  • In Western countries, the mean age of acute stroke patients is approximately 75 years. (neurology.org)
Disorders1
  • Diagnostic criteria have been designed to increase sensitivity, resulting in lowered specificity to the extent that patients with other disorders, both inherited and acquired, have the potential to meet McDonald Criteria when 'no better explanation' for symptoms, signs, or investigational findings is elicited by the treating physician. (medscape.com)
Family1
  • Here, we present a case series of two patients with CADASIL showing MRI pattern overlapping MS. They were the only case of co-occurrence of CADASIL and MS in their own family. (fortuneonline.org)
Previous1
  • Genetic and clinical data of CADASIL patients from previous studies were also analyzed. (nih.gov)
Present1
  • A karyotype should be routinely performed on all affected patients even if dysmorphic features are not present. (basicmedicalkey.com)
Generally1
  • tandem lesions generally have a worse prognosis (multiple M2 occlusions may clinically mimic M1 occlusion, etc. (stroke-manual.com)
Volume1