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Correlation between neuroimaging, neurological phenotype, and functional outcomes in Wilson’s disease
IntroductionWilson’s disease (WD) is associated with a variety of movement disorders and progressive neurological dysfunction. The aim of this study...
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De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy
Nine out of 19 genes encoding GABA A receptor subunits have been linked to monogenic syndromes characterized by seizures and developmental disorders....
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Omega-3 Polyunsaturated Fatty Acids Protect Neurological Function After Traumatic Brain Injury by Suppressing Microglial Transformation to the Proinflammatory Phenotype and Activating Exosomal NGF/TrkA Signaling
The transformation of microglia to a pro-inflammatory phenotype at the site of traumatic brain injury (TBI) drives the progression of secondary...
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Neuropathology of Neurological Disorders
Neuropathology delineates the examination of cells and tissues, to assimilate the structure and function of the neurological system as well as the...
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Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study
Translation elongation factor eEF1A2 constitutes the alpha subunit of the elongation factor-1 complex, responsible for the enzymatic binding of...
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Characterizing the neurological phenotype of the hyperinsulinism hyperammonemia syndrome
BackgroundHyperinsulinism hyperammonemia (HI/HA) syndrome is caused by activating mutations in GLUD1 , encoding glutamate dehydrogenase (GDH)....
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Deep neurological phenoty** in oculo-dento-digital syndrome
ObjectivesOculodentodigital dysplasia (ODDD) is a rare autosomal dominant congenital malformation syndrome characterized by high penetrance and great...
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Aneuploidy is Linked to Neurological Phenotypes Through Oxidative Stress
Aneuploidy, having an aberrant genome, is gaining increasing attention in neurodegenerative diseases. It gives rise to proteotoxic stress as well as...
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GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome
BackgroundIdentification and characterisation of monogenic causes of complex neurological phenotypes are important for genetic counselling and...
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Stem Cell Therapy After Neurological Injuries
Axonal degeneration, inflammation, neuronal death, and cytoarchitectural distortion can result from neurological injuries in both the central and...
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A novel frameshift variant in the ADA2 gene of a patient with a neurological phenotype: a case report
BackgroundAdenosine deaminase 2 (ADA2) deficiency is an inherited autoinflammatory syndrome caused by a defect in the ADA2 gene. Most common...
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Expanding the neurological and behavioral phenotype of White-Sutton syndrome: a case report
BackgroundWhite-Sutton (WHSUS) is a recently recognized syndrome caused by mutations of the POGZ gene. Approximately 70 patients have been reported...
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Haptoglobin Attenuates Cerebrospinal Fluid Hemoglobin-Induced Neurological Deterioration in Sheep
Secondary brain injury (SBI) occurs with a lag of several days post-bleeding in patients with aneurysmal subarachnoid hemorrhage (aSAH) and is a...
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Mas receptor activation facilitates innate hematoma resolution and neurological recovery after hemorrhagic stroke in mice
BackgroundIntracerebral hemorrhage (ICH) is a devastating neurological disease causing severe sensorimotor dysfunction and cognitive decline, yet...
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Identifying high-risk neurological phenotypes in adult-onset classic monogenic autoinflammatory diseases: when should neurologists consider testing?
BackgroundMonogenic autoinflammatory disorders result in a diverse range of neurological symptoms in adults, often leading to diagnostic delays....
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Serum neurofilament light chain and initial severity of neurological disease predict the early neurological deterioration in Wilson’s disease
BackgroundIn Wilson’s disease (WD), early neurological deterioration after treatment initiation is associated with poor outcomes; however, data on...
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SARS-CoV-2 antibodies in inflammatory neurological conditions: a multicentre retrospective comparative study
It is well established that neurological and non-neurological autoimmune disorders can be triggered by viral infections. It remains unclear whether...
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A Narrative Review of the Neurological Manifestations of Human Adenosine Deaminase 2 Deficiency
Deficiency of human adenosine deaminase type 2 (DADA2) is a complex systemic autoinflammatory disorder characterized by vasculopathy, immune...
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Early neurological deterioration in Wilson’s disease: a systematic literature review and meta-analysis
IntroductionNeurological deterioration, soon after anti-copper treatment initiation, is problematic in the management of Wilson’s disease (WD) and...
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I-C-F-6 attenuates chronic cerebral hypoperfusion-induced neurological injury in mice by modulating microglia polarization
Chronic cerebral hypoperfusion (CCH) is the leading cause of chronic cerebral dysfunction syndrome with its complex pathological mechanisms involving...
