Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Associated With a Novel In-Frame Mutation in the NOTCH3 Gene in a Japanese Patient

Here, we report a case involving a 67-year-old Japanese woman with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) associated with a novel in-frame complex rearrangement in the NOTCH3 gene. The patient had gradually developed cognitive impairment since the occurrence of an ischemic stroke at the age of 53 years. Her mother had a history of stroke and dementia. Fluid-attenuated inversion recovery magnetic resonance imaging of the brain showed hyperintense lesions in the bilateral temporal poles, external capsules, and periventricular white matter accompanied by multiple cerebral microbleeds on T2*-weighted gradient-echo imaging.
Source: Journal of Stroke and Cerebrovascular Diseases - Category: Neurology Authors: Tags: Case Report Source Type: research

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CONCLUSIONS: Sixty percent of stroke survivors have a favorable cognitive outcome. Lower age and lower MTLA grade on MRI were associated with favorable outcome. PMID: 31461703 [PubMed - as supplied by publisher]
Source: Dementia and Geriatric Cognitive Disorders - Category: Psychiatry Tags: Dement Geriatr Cogn Disord Source Type: research
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Source: Frontiers in Neurology - Category: Neurology Source Type: research
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Source: Frontiers in Neurology - Category: Neurology Source Type: research
In conclusion, our data support that plasma DAO levels were increased in PSD patients and correlated with brain WMH, independent of age, gender, hypertension, and renal function. Plasma DAO levels may therefore aid in PSD diagnosis. Introduction Stroke is a risk factor for both vascular dementia and Alzheimer's disease (1, 2). Functional recovery develops over the course of 26 weeks after a stroke (3), but the survivors are often left with disabilities. In addition to the sequelae of acute neuronal damage, the 1-year post-stroke dementia (PSD) rates after first-ever and recurrent stroke are ~10 and 30%, respe...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Conclusions: Our results demonstrate that the presence and extent of cSS are associated with reduced CSF ß-amyloid 42 levels. Further studies are needed to investigate the underlying mechanisms of this association. Introduction Cerebral amyloid angiopathy (CAA)—characterized by the deposition of ß-amyloid in the walls of leptomeningeal vessels—is a common cerebral small vessel disease and a major cause of intracerebral hemorrhage in the elderly (1–3). Furthermore, it has become evident that CAA is associated with cognitive impairment (4). Specifically, it has been shown that CAA patien...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Shanshan Zhang1, Dongli Yuan2 and Ge Tan1* 1Department of Neurology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China 2The Institute of Medical Information, Chongqing Medical University, Chongqing, China Primary systemic vasculitis can affect every structure in both the central and peripheral nervous system, causing varied neurological manifestations of neurological dysfunction. Early recognition of the underlying causes of the neurological symptoms can facilitate timely treatment and improve the prognosis. This review highlights the clinical manifestations of primary systemic vasc...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Wei Li1†, Wei-Min Xiao1†, Yang-Kun Chen1*, Jian-Feng Qu1, Yong-Lin Liu1, Xue-Wen Fang2, Han-Yu Weng1 and Gen-Pei Luo11Department of Neurology, Dongguan People’s Hospital, Dongguan, China2Department of Radiology, Dongguan People’s Hospital, Dongguan, ChinaBackground: Anxiety is prevalent after a stroke. The pathophysiological mechanisms underlying the development of poststroke anxiety (PSA) remain unclear. The aim of this study was to investigate the clinical and neuroimaging risk factors for development of PSA and examine the effects of PSA on activities of daily living (ADL) and quality of life (...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
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Source: Frontiers in Neurology - Category: Neurology Source Type: research
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Source: Frontiers in Neurology - Category: Neurology Source Type: research
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a genetically determined disease of the cerebral vessels, characterized by recurrent ischemic strokes, dementia, and degeneration of the cerebral white matter. The condition is caused by a mutation in the NOTCH3 gene, whose product plays a great role in the development and physiology of the cardiovascular system. Magnetic resonance imaging reveals multiple hyperintensive lesions of the white matter in the T2-weighted images also in asymptomatic carriers of CADASIL and can be detected even 10-15 years prior to clinical signs.
Source: Journal of Stroke and Cerebrovascular Diseases - Category: Neurology Authors: Source Type: research
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