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Linking cortical astrocytic neogenin deficiency to the development of Moyamoya disease-like vasculopathy
Neurobiol Dis. 2021 Mar 25:105339. doi: 10.1016/j.nbd.2021.105339. Online ahead of print.ABSTRACTMoyamoya-like vasculopathy, the "puff of smoke"-like small vessels in the brain, is initially identified in patients with Moyamoya disease (MMD), a rare cerebrovascular disease, and later found in patients with various types of neurological conditions, including Down syndrome, Stroke, and vascular dementia. It is thus of interest to understand how this vasculopathy is developed. Here, we provided evidence for cortical astrocytic neogenin (NEO1) deficiency to be a risk factor for its development. NEO1, a member of deleted in col...
Source: Neurobiology of Disease - March 29, 2021 Category: Neurology Authors: Xiao Ren Ling-Ling Yao Jin-Xiu Pan Jun-Shi Zhang Lin Mei Yong-Gang Wang Wen-Cheng Xiong Source Type: research

Moyamoya Disease Associated with Graves ’ Disease and Down Syndrome: A Case Report and Literature Review
Moyamoya vessels (MMV) are cerebral vasculopathies characterized by the formation of net-like collateral vessels at the cerebral basal area and stenosis of the terminal internal carotid artery (ICA), proximal middle cerebral artery (MCA), and anterior cerebral artery (ACA). Moyamoya disease (MMD) is diagnosed when these MMVs occur bilaterally.1,2
Source: Journal of Stroke and Cerebrovascular Diseases - October 29, 2020 Category: Neurology Authors: Hikaru Nakamura, Kei Sato, Shota Yoshimura, Yukishige Hayashi, Tsuyoshi Izumo, Yoshiharu Tokunaga Source Type: research

Immunomagnetic Reduction Detects Plasma A β 1–42 Levels as a Potential Dominant Indicator Predicting Cognitive Decline
AbstractAlthough the concentrations of Alzheimer ’s disease (AD) biomarkers Aβ1 –40, A β1 –42 and tau protein are very low in human plasma, ultrasensitive assays such as immunomagnetic reduction (IMR) are able to precisely quantify them. Review articles have described the detailed working mechanism of IMR and revealed the feasibility of detecting early-stage AD by assaying these plasma biomarkers with IMR. In this review, we aimed to compare the significance of these plasma biomarkers in predicting cognitive decline in patients with Down syndrome, stroke, or amnestic mild cognitive impairment based on findings in t...
Source: Neurology and Therapy - October 22, 2020 Category: Neurology Source Type: research

Brain stem infarction in a 6-year-old boy with Down syndrome
Infarct locations in children with arterial ischemic stroke have primarily been reported to be lobar or in the basal ganglia, and those in patients with Down syndrome (DS) and antiphospholipid syndrome (APS) are typically wide and multiple. No solitary brain stem infarctions have ever been reported in children with DS until now. Here, we report a case of brain stem infarction in a 6-year-old boy with DS who had no cardiac, renal, or intestinal complications. He exhibited ataxic gait and medial longitudinal fasciculus (MLF) symptoms at first presentation.
Source: Brain and Development - March 7, 2019 Category: Neurology Authors: Toru Imagi, Tomonaga Matsushita, Miyuki Matsushita, Yukako Yae, Takaoki Yokochi, Go Kawano, Yukihiro Akita, Keizo Ohbu, Toyojiro Matsuishi Tags: Case Report Source Type: research

Multiple Cerebral Hemorrhagic Lesions Depicted by Susceptibility-Weighted Imaging in a Patient with Down Syndrome: Case Report
Our objective is to study a 53-year-old woman with Down syndrome presented with massive lobar hematoma in the left fronto-parietal lobe, and who underwent craniotomy and hematoma evacuation. Histopathological diagnosis of surgical specimen was amyloid angiopathy. Postoperative magnetic resonance studies were performed. The lesion this time showed mixed intensity on susceptibility-weighted imaging. In addition, multiple hypointense lesions were evident. An old previously unidentified hemorrhage in the right temporo-parietal lobe was accompanied by superficial cortical siderosis.
Source: Journal of Stroke and Cerebrovascular Diseases - February 20, 2019 Category: Neurology Authors: Kei Yanai, Yasuo Ishida, Hajime Nishido, Shinya Miyamoto, Kazuto Yamazaki, Katsumi Hoya Tags: Case Report Source Type: research

Moyamoya Syndrome Secondary to Vasculopathy in Down Syndrome: A Case Report and Literature Review (P3.071)
Conclusions:Our case suggests the angiographic pattern in Moyamoya syndrome due to Down syndrome vasculopathy may begin in the middle cerebral artery as it occasionally can in idiopathic Moyamoya disease with sparing of the supraclinoid internal carotid artery. Further studies are warranted to compare the angiographic and clinical course of Moyamoya syndrome due to Down syndrome vasculopathy with that of idiopathic Moyamoya disease.Disclosure: Dr. Shehabeldin has nothing to disclose. Dr. Ruthirago has nothing to disclose. Dr. Alderazi has nothing to disclose.
Source: Neurology - April 17, 2017 Category: Neurology Authors: Shehabeldin, M., Ruthirago, D., Alderazi, Y. J. Tags: Cerebrovascular Disease and Interventional Neurology ePoster Session Source Type: research

Stroke in adults with Down syndrome
Down syndrome (DS) is the commonest chromosomal abnormality in live born infants [1]. Over the past decades, DS patients had a remarkable increase in their life expectancy [2], urging the need to improve our knowledge in age-related disorders, such as cerebrovascular diseases. DS patients are at increased risk of stroke when compared with age-matched individuals [3], however there are only few studies approaching this topic and none focusing on the adult population.
Source: Journal of the Neurological Sciences - February 6, 2017 Category: Neurology Authors: Jo ão Pedro Marto, Mariana Dias, José Nuno Alves, Vera Montes, José Beato-Coelho, Cláudia Marques-Matos, Ary de Sousa, Francisco Bernardo, Sofia Calado, Miguel Viana-Baptista Tags: Letter to the Editor Source Type: research

Cognitive decline and dementia in Down syndrome.
Abstract PURPOSE OF REVIEW: Alzheimer's disease is most likely universal in older individuals with Down syndrome, due to having three copies of the amyloid precursor protein gene, resulting in amyloid-beta plaque deposition. Down syndrome is an important population in which to consider clinical trials of treatments to prevent or delay the development of dementia. However, assessment of subtler cognitive changes is challenging due to the presence of intellectual disability. RECENT FINDINGS: Recent research confirmed that older adults with Down syndrome often present with cognitive decline: more than 80% may ex...
Source: Epilepsy Curr - December 20, 2016 Category: Neurology Authors: Hithersay R, Hamburg S, Knight B, Strydom A Tags: Curr Opin Psychiatry Source Type: research

Can Quantitative Muscle Strength and Functional Motor Ability Differentiate the Influence of Age and Corticosteroids in Ambulatory Boys with Duchenne Muscular Dystrophy?
Conclusion The baseline data analysis of this natural history study indicates that the outcomes measures utilized in this study were sensitive to the age related differences in strength and motor function that are characteristic of disease progression boys with DMD; however treatment effects were less likely to be identified. These findings reflect the difficulty inherent in obtaining the statistical power needed to substantiate intervention efficacy in the small, heterogeneous samples sizes that are characteristic of DMD clinical studies. Isokinetic dynamometry revealed variability in the muscles affected, which has been ...
Source: PLOS Currents Muscular Dystrophy - July 8, 2016 Category: Neurology Authors: cbuckon Source Type: research

Unusual association between lysinuric protein intolerance and moyamoya vasculopathy.
CONCLUSION: To the best of our knowledge, this is the first reported case of an association between moyamoya vasculopathy and LPI. While the question of association or coincidence cannot yet be answered, several pathophysiological consequences of LPI can be defined as separate, such as links between the impact of low arginine levels on the function of vascular endothelium and brain nitric oxide metabolism, as well as hemophagocytic syndrome associated with the risk of vasculitis, thus accounting for the development of moyamoya vasculopathy. PMID: 27321952 [PubMed - as supplied by publisher]
Source: European Journal of Paediatric Neurology - June 7, 2016 Category: Neurology Authors: Ghilain V, Wiame E, Fomekong E, Vincent MF, Dumitriu D, Nassogne MC Tags: Eur J Paediatr Neurol Source Type: research

Hemorrhagic stroke, cerebral amyloid angiopathy, Down syndrome and the Boston criteria.
Abstract A stroke, or a cerebrovascular accident (CVA) is a life-threatening condition which often results in permanent or significant disability in the adult population. Several classifications of CVAs exist, one of them being based on the mechanism of injury of brain tissue: ischemic (85-90%) and hemorrhagic (10-15%). In a hemorrhagic stroke an intercranial bleeding occurs, leading to the formation of a focal hematoma typically located in the basal ganglia of the brain (approx. 45% of cases). A common yet underestimated cause of intracerebral hemorrhage is cerebral small vessel disease with microhemorrhages, inc...
Source: Neurologia i Neurochirurgia Polska - May 1, 2015 Category: Neurology Authors: Jastrzębski K, Kacperska MJ, Majos A, Grodzka M, Głąbiński A Tags: Neurol Neurochir Pol Source Type: research

Early onset of moyamoya syndrome in a Down syndrome patient with the genetic variant p.R4810K
We describe the case of a 2-year-old girl presenting with early onset of moyamoya syndrome with concurrent Down syndrome. Genetic testing revealed a heterozygous missense variant of RNF213. RNF213 was recently identified as the first susceptibility gene for moyamoya disease in patients with no known associated risk factors. The reported median age at the onset of idiopathic moyamoya disease with a heterozygous RNF213 risk variant is 7years, while, the average age at onset of moyamoya syndrome in Down syndrome is 7–16years.
Source: Brain and Development - December 26, 2014 Category: Neurology Authors: Pin Fee Chong, Reina Ogata, Hatasu Kobayashi, Akio Koizumi, Ryutaro Kira Tags: Case Report Source Type: research

Down syndrome and arterial ischemic stroke in childhood: A potential immunologic link with selective IgG4 subclass deficiency.
We report four children with Down Syndrome (DS) without evidence of congenital heart disease who sustained cerebral infarction in the context of an infectious disease. In one child, stroke occurred in the context of acute infection with Mycoplasma pneumonia. In another child, stroke occurred in the context of Streptococcus oralis (viridans subgroup) infection. In two other children, stroke occurred in the context of a bibasilar pneumonia for which an etiologic agent was not found. All patients had evidence of selective IgG4 subclass deficiency. We followed 8 other children with down syndrome with infectious diseases, but w...
Source: European Journal of Paediatric Neurology - February 25, 2014 Category: Neurology Authors: Pavone P, Falsaperla R, De Silva K, Taibi R, Verrotti A, Trifiletti RR, Vitaliti G Tags: Eur J Paediatr Neurol Source Type: research

Moyamoya Disease Associated with Asymptomatic Mosaic Turner Syndrome: A Rare Cause of Hemorrhagic Stroke
We present the first reported case of an adult patient with previously unrecognized mosaic Turner syndrome with acute subarachnoid and intracerebral hemorrhage as the initial manifestation of moyamoya syndrome. A 52-year-old woman was admitted with a subarachnoid hemorrhage with associated flame-shaped intracerebral hemorrhage in the left frontal lobe. Physical examination revealed short stature, pectus excavatum, small fingers, micrognathia, and mild facial dysmorphism. Cerebral angiography showed features consistent with bilateral moyamoya disease, aberrant intrathoracic vessels, and an unruptured 4-mm right superior hyp...
Source: Journal of Stroke and Cerebrovascular Diseases - October 7, 2013 Category: Neurology Authors: Sunil Manjila, Benjamin R. Miller, Anitha Rao-Frisch, Balint Otvos, Anna Mitchell, Nicholas C. Bambakidis, Michael A. De Georgia Tags: Case Reports Source Type: research