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Two cases of clinical and MRI manifestations of genetically verified CADASIL syndrome in female patients under 40 years of age are presented. The primary misinterpretation of clinical data and the neuroimaging results within multiple sclerosis indicates a lack of awareness of radiologists and neurologists about this disease. The article reviewed the current literature on the problems of diagnosis and treatment of CADASIL. The clinical and neuroimaging pattern of the syndrome, the approaches to genetic testing and the basic principles of patient management are considered in detail.
This article was published in the following journal.
Name: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
The presence of white mater lesions in the central nervous system forces the differential diagnosis between multiple sclerosis (MS) and Anderson-Fabry disease (FD). Due to the type of inheritance, lin...
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The purpose of this study is to delineate early neurological features and their progression in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoenc...
We propose to evaluate auditory function and neuropsychologic function in 150 Multiple Sclerosis (MS) patients and in 150 patients who do not have MS. Experimental subjects will be recrui...
This is a pilot study (a small scale study testing procedures so that the investigators can apply this to a larger scale study). This study will test the accuracy of a new brain scan (Magn...
The primary objective of the study is to evaluate the adherence to the treatment with interferon beta-1b, in patients diagnosed with isolated syndrome (CIS), relapsing-remitting multiple s...
We aim to evaluate the role of conventional and advanced MRI sequences in: 1. Establishing the diagnosis of multiple sclerosis and differentiate it from its mimics. 2. Predict the pr...
A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914)
A familial, cerebral arteriopathy mapped to chromosome 19q12, and characterized by the presence of granular deposits in small CEREBRAL ARTERIES producing ischemic STROKE; PSEUDOBULBAR PALSY; and multiple subcortical infarcts (CEREBRAL INFARCTION). CADASIL is an acronym for Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy. CADASIL differs from BINSWANGER DISEASE by the presence of MIGRAINE WITH AURA and usually by the lack of history of arterial HYPERTENSION. (From Bradley et al, Neurology in Clinical Practice, 2000, p1146)
A non-glycosylated form of interferon beta-1 that has a serine at position 17. It is used in the treatment of both RELAPSING-REMITTING MULTIPLE SCLEROSIS and CHRONIC PROGRESSIVE MULTIPLE SCLEROSIS.
An autoimmune disorder mainly affecting young adults and characterized by destruction of myelin in the central nervous system. Pathologic findings include multiple sharply demarcated areas of demyelination throughout the white matter of the central nervous system. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia, and bladder dysfunction. The usual pattern is one of recurrent attacks followed by partial recovery (see MULTIPLE SCLEROSIS, RELAPSING-REMITTING), but acute fulminating and chronic progressive forms (see MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE) also occur. (Adams et al., Principles of Neurology, 6th ed, p903)
Inflammation of the retinal vasculature with various causes including infectious disease; LUPUS ERYTHEMATOSUS, SYSTEMIC; MULTIPLE SCLEROSIS; BEHCET SYNDROME; and CHORIORETINITIS.
Radiology is the branch of medicine that studies imaging of the body; X-ray (basic, angiography, barium swallows), ultrasound, MRI, CT and PET. These imaging techniques can be used to diagnose, but also to treat a range of conditions, by allowing visuali...