Novel and Recurring NOTCH3 Mutations in Two Chinese Patients with CADASIL.

CONCLUSIONS: We identified 2 NOTCH3 mutations as likely genetic causes for CADASIL in these 2 patients. Our findings broaden the mutational spectrum of the NOTCH3 gene accountable for CADASIL. Clinical manifestations supplemented with molecular genetic analyses are critical for accurate diagnosis, the provision of genetic counseling, and the development of therapies for CADASIL. PMID: 31212292 [PubMed - as supplied by publisher]
Source: Neuro-Degenerative Diseases - Category: Neurology Authors: Tags: Neurodegener Dis Source Type: research

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AbstractPurpose of ReviewTranscranial magnetic stimulation (TMS) is a method of Non-Invasive Brain Stimulation that is based on electro-physical principles discovered by Michael Faraday. A TMS device is made of one or two copper coils, positioned superficially to a site of interest in the brain, to non-invasively produce a brief magnetic pulse to an estimated depth from the surface of the scalp with the following axonal depolarization. This axonal depolarization activates cortical and subcortical networks with multiple effects. There are different methods of TMS used, all with different mechanisms of action. TMS is well to...
Source: Current Neurology and Neuroscience Reports - Category: Neuroscience Source Type: research
We describe the clinical course, radiological features and therapeutic approach of two patients with probable CAA-ri with the aim of emphasizing the importance of an early diagnosis of this potentially reversible disease in different neurological settings, such as memory clinics and stroke units.
Source: Journal of Neuroimmunology - Category: Allergy & Immunology Authors: Tags: Short Communication Source Type: research
ConclusionsThe most frequent causes of cSAH in our series were cerebral amyloid angiopathy, ischaemic stroke, and vasculitis. This type of haemorrhage has a worse prognosis than other non-aneurysmal cSAH. There are numerous possible causes, and prognosis depends on the aetiology. In elderly patients, intracranial haemorrhage is frequently associated with cognitive impairment.ResumenIntroducciónLas hemorragias subaracnoideas corticales (HSAc) tienen numerosas etiologías. No hay estudios prospectivos que indiquen su evolución a largo plazo. El objetivo de este trabajo es describir las característi...
Source: Neurologia - Category: Neurology Source Type: research
Authors: Carota A, Bogousslavsky J Abstract Hallucinations, delusions, and confabulations are common symptoms between neurology and psychiatry. The neurological diseases manifesting with such symptoms (dementia, epilepsy, Korsakoff's disease, brain tumors, Parkinson's disease, migraine, right hemisphere stroke and others) would be the key to understand their biological mechanisms, while the cognitive sciences, neuropharmacology and functional neuroimaging would be the tools of such researches. It is possible to understand the perceptive rules of the mind and the mechanisms of the human consciousness based on these ...
Source: Frontiers of Neurology and Neuroscience - Category: Neuroscience Tags: Front Neurol Neurosci Source Type: research
AbstractPurpose of the ReviewMaternal morbidity and mortality is rising in the USA, and maternal stroke is a major contributor. Here, we review the epidemiology, risk factors, and current recommendations for diagnosis and acute treatment of ischemic and hemorrhagic stroke during pregnancy and postpartum, focusing on recent evidence.Recent FindingsThe incidence of maternal stroke has risen in recent years, possibly due to increasing rates of hypertensive disorders of pregnancy. The risk of maternal stroke is highest in the peripartum and early postpartum period. Preeclampsia is highly associated with reversible cerebral vas...
Source: Current Atherosclerosis Reports - Category: Cardiology Source Type: research
Conclusions: We identified 2NOTCH3 mutations as likely genetic causes for CADASIL in these 2 patients. Our findings broaden the mutational spectrum of theNOTCH3 gene accountable for CADASIL. Clinical manifestations supplemented with molecular genetic analyses are critical for accurate diagnosis, the provision of genetic counseling, and the development of therapies for CADASIL.Neurodegener Dis
Source: Neurodegenerative Diseases - Category: Neurology Source Type: research
This study investigates whether METH induces autophagy in the human dopaminergic neuroblastoma cell line SH-SY5Y, then examines the neuroprotective effects of gastrodin against autophagy in METH-treated SH-SY5Y cells. The effects of METH on the protein expressions of autophagy-related genes (LC3B and Beclin-1) were evaluated with and without gastrodin. The presence of autophagosomes in the METH-induced treatment with and without gastrodin is revealed through transmission electron microscopy. Pharmacological intervention was employed to study the role of the AKT/mTOR signaling pathway in the gastrodin-mediated neuroprotecti...
Source: Neuroscience Letters - Category: Neuroscience Source Type: research
Study shows even healthy individuals may be at risk although reasons are unclear Related items fromOnMedica Celebrities back brain donation campaign UK C-diff testing "inaccurate and inconsistent" A healthy middle age combats dementia Alzheimer's link to reduced cancer risk Aura migraines double stroke risk in some groups
Source: OnMedica Latest News - Category: UK Health Source Type: news
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
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