Clinical and Genetic Heterogeneity in a Large Family with Pseudoxanthoma Elasticum: MTHFR and SERPINE1 Variants as Possible Disease Modifiers in Developing Ischemic Stroke

Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder caused by pathogenic variants in the ABCC6 gene. The phenotypic spectrum of PXE is highly variable and includes principally three major features: skin lesions, eye and vascular manifestations, while brain manifestations are less common. To date about 400 different PXE associated variants in ABCC6 gene are described without any evident genotype –phenotype correlation. Herein, we report the clinical and molecular findings of a large PXE family with clinical and genetic intra-familial variability with significant cerebrovascular involvement.
Source: Journal of Stroke and Cerebrovascular Diseases - Category: Neurology Authors: Source Type: research

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Authors: Sabet Sarvestani F, Azarpira N Abstract Heart and cerebral infarctions, as two important ischemic diseases, lead to the death of tissues due to inadequate blood supply and high mortality worldwide. These statuses are started via blockage of vessels and depletion of oxygen and nutrients which affected these areas. After reperfusion and restoration of oxygen supply, more severe injury was mediated by multifaceted cascades of inflammation and oxidative stress. microRNAs (miRNAs) as the regulator of biological and pathological pathways can adjust these conditions by interaction with their targets. Also, miRNAs...
Source: Immunological Investigations - Category: Allergy & Immunology Tags: Immunol Invest Source Type: research
Publication date: Available online 9 October 2020Source: NeuropsychologiaAuthor(s): Erin L. Meier, Shannon M. Sheppard, Emily B. Goldberg, Catherine R. Head, Delaney M. Ubellacker, Alexandra Walker, Argye E. Hillis
Source: Neuropsychologia - Category: Neurology Source Type: research
Publication date: Available online 9 October 2020Source: Neurología (English Edition)Author(s): J.P. Martínez-Barbero, P. Tomás-Muñoz, R. Martínez-Moreno
Source: Neurologia - Category: Neurology Source Type: research
Authors: Mantero V, Rigamonti A, Basilico P, Sangalli D, Scaccabarozzi C, Salmaggi A PMID: 33029982 [PubMed]
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
Authors: Kargiotis O, Safouris A, Psychogios K, Chondrogianni M, Andrikopoulou A, Theodorou A, Magoufis G, Stamboulis E, Tsivgoulis G PMID: 33029978 [PubMed]
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
CONCLUSIONS: Young adult IS patients in Korea exhibit low awareness and poor management of their risk factors. Although the short-term outcome was relatively favorable in those patients, having SLE was associated with unfavorable outcomes. More attention needs to be paid for improving awareness and controlling risk factors in this population. PMID: 33029967 [PubMed]
Source: Journal of Clinical Neurology - Category: Neurology Tags: J Clin Neurol Source Type: research
Abstract As the global population ages, the incidence of neurodegenerative diseases has risen. Furthermore, it has been suggested that depression, especially in elderly people, may also be an indication of latent neurodegeneration. Stroke, Alzheimer's disease (AD), and Parkinson's disease (PD) are usually accompanied by depression. The urgent challenge is further enforced by psychiatric comorbid conditions, particularly the feeling of despair in these patients. Fortunately, as our understanding of the neurobiological substrates of maladies affecting the central nervous system (CNS) has increased, more therapeutic ...
Source: Neural Plasticity - Category: Neurology Authors: Tags: Neural Plast Source Type: research
Abstract Action selection (AS), or selection of an action from a set of alternatives, is an important movement preparation process that engages a frontal-parietal network. The addition of AS demands to arm training after stroke could be used to engage this motor planning process and the neural network that supports it. The purpose of this case series is to describe the feasibility and outcomes associated with task-oriented arm training aimed at engaging the AS behavioral process and the related neural network in three individuals with chronic stroke. Three participants with mild to moderate motor deficits complete...
Source: Neural Plasticity - Category: Neurology Authors: Tags: Neural Plast Source Type: research
Conclusions: The integrity of the intra- and interhemispheric connections might be related to different processes of motor recovery dependent on the BDNF genotype. Thus, the BDNF genotype may need to be considered as a factor influencing neuroplasticity and functional recovery in patients with stroke. This trial is registered with http://www.clinicaltrials.gov: NCT03647787. PMID: 33029116 [PubMed - in process]
Source: Neural Plasticity - Category: Neurology Authors: Tags: Neural Plast Source Type: research
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Source: Neurological Sciences - Category: Neurology Source Type: research
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