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Decreased CSF Levels of ß-Amyloid in Patients With Cortical Superficial Siderosis
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 ...
Source: Frontiers in Neurology - April 25, 2019 Category: Neurology Source Type: research

A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency
Conclusion: We identified a novel non-sense mutation in MTHFR gene in a single Egyptian family with severe MTHFR deficiency. The present investigation is clinically important, as it adds to the growing list of MTHFR mutations, which might help in genetic counseling of families of affected children and proper genotype-phenotype correlation. Background Severe 5,10-Methylenetetrahydrofolate reductase (MTHFR; OMIM 236250) deficiency is a rare inborn error of metabolism and inherited in an autosomal recessive fashion. It is a very common disorder of folate metabolism and is clinically characterized with low plasma methion...
Source: Frontiers in Neurology - April 23, 2019 Category: Neurology Source Type: research