Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038454 (stroke)
 147,016 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Introduction: Cerebral autosomal dominant arteriopathy and subcortical infarct leukoencephalopathy (CADASIL) is the most common form of hereditary stroke caused by a mutation in the NOTCH3 gene located on the short arm of chromosome 19. A small number of published reports describe CADASIL patients who were initially diagnosed as multiple sclerosis. Although it was previously indicated that there was no association between NOTCH3 mutations and multiple sclerosis, the involvement of autoimmune mechanisms among patients with CADASIL has been hypothesized. Case Presentation: Case 1 is a middle-aged woman with initial diagnoses of multiple sclerosis (MS) and myelitis that continued to progress despite treatment with disease-modifying agents. She had occasional migraines, transient blurred vision, and multiple lacunar infarcts. She continued treatment for about 15 years with no significant alleviation and progressive changes on brain MRI; genetic testing was ordered which showed NOTCH3 mutation, and diagnosis was changed to CADASIL with subsequent revision of treatment course. However, the presence of myelitis in this patient is unusual and may raise the question of a concurrent autoimmune process. Case 2 is a woman presenting with vertigo and paresthesia and diagnosed with MS based on an initial brain MRI showing biventricular white matter hyperintensities; however, she was not started on any disease-modifying agents. Her symptoms were reevaluated by a neurologist, and genetic testing was performed for NOTCH 3. Case 3 is a young woman with a history of migraines who initially presented with numbness and gait ataxia which later progressed to speech difficulty and memory loss. A diagnosis of MS was established which was later changed to CADASIL. Conclusion: Since CADASIL is a rare disease, it is imperative to raise awareness of its unique clinical condition as well as variation in its clinical presentations. It is crucial that the overlapping symptoms between MS and CADASIL be thoroughly examined to avoid misdiagnosis and treatment complications. The involvement of autoimmune mechanisms in CADASIL and the role of NOTCH3 gene mutations in provoking an autoimmune process should be further investigated.
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PMID:CADASIL vs. Multiple Sclerosis: Is It Misdiagnosis or Concomitant? A Case Series. 3301 20

Transient global amnesia (TGA) is a disorder characterised by a temporary, reversible disruption of short-term memory. While the diagnosis of TGA is based on its clinical features, neuroimaging is important to exclude other sinister causes of global amnesia. Furthermore, classical MRI changes in TGA have been well described in the literature. These consist of unilateral or bilateral punctuate areas of hyperintensity in the hippocampal cornu ammonis 1 (CA1) region on diffusion-weighted imaging. We describe a case of a 61-year-old gentleman, presenting with symptoms of transient memory loss and confusion. A stroke was initially suspected in view of his multiple risk factors. Timely MRI demonstrated the typical findings associated with TGA. Recognition of these imaging features is of the utmost importance for radiologists in order to allow for an accurate diagnosis and differentiation from ischaemic pathology.
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PMID:Highlighting the classical MRI findings in transient global amnesia. 3302 75

An autoimmune response causing inflammation in the brain tissue is called autoimmune encephalitis. Autoantibodies directed against N-methyl-D-aspartate (NMDA) receptors cause a type of autoimmune encephalitis resulting in memory loss, confusion, and psychosis. A 28-year-old male with a history of schizophrenia, seizure disorder, and stroke presented with a 2-day history of bizarre behavior, restlessness, insomnia, agitation, and hallucinations. He was initially managed for acute psychosis without any improvement. Further workup for organic causes revealed positive NMDAR antibodies in both the cerebrospinal fluid and serum, confirming a diagnosis of autoimmune encephalitis. His condition later improved with steroids and intravenous immunoglobulins. This case signifies the importance of ruling out organic causes in patients with unexplained neuropsychiatric symptoms. NMDA encephalitis is more common in young females with underlying malignancies, especially ovarian teratomas. This case is unique, given the extremely rare occurrence of NMDA encephalitis in male patients without any malignancies.
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PMID:Finding the Cause of Psychosis: A Challenging Case of Anti-NMDAR Encephalitis. 3311 Apr 31

Cognitive impairment and memory loss are commonly seen after stroke and a third of patients will develop signs of dementia a year after stroke. Despite a large number of studies on the beneficial effects of neuroprotectants, few studies have examined the effects of these compounds/interventions on long-term cognitive impairment. Our previous work showed that the microRNA mir363-3p reduced infarct volume and sensory-motor impairment in the acute stage of stroke in middle-aged females but not males. Thus, the present study determined the impact of mir363-3p treatment on stroke-induced cognitive impairment in middle-aged females. Sprague-Dawley female rats (12 months of age) were subjected to middle cerebral artery occlusion (MCAo; or sham surgery) and injected (iv) with mir363-3p mimic (MCAo + mir363-3p) or scrambled oligos (MCAo + scrambled) 4 h later. Sensory-motor performance was assessed in the acute phase (2-5 days after stroke), while all other behaviors were tested 6 months after MCAo (18 months of age). Cognitive function was assessed by the novel object recognition test (declarative memory) and the Barnes maze (spatial memory). The MCAo + scrambled group showed reduced preference for a novel object after the stroke and poor learning in the spatial memory task. In contrast, mir363-3p treated animals were similar to either their baseline performance or to the sham group. Histological analysis showed significant deterioration of specific white matter tracts due to stroke, which was attenuated in mir363-3p treated animals. The present data builds on our previous finding to show that a neuroprotectant can abrogate the long-term effects of stroke.
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PMID:Mir363-3p Treatment Attenuates Long-Term Cognitive Deficits Precipitated by an Ischemic Stroke in Middle-Aged Female Rats. 3313 4


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