Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Aug 2019
ReviewSeizures and movement disorders: phenomenology, diagnostic challenges and therapeutic approaches.
Seizures and movement disorders (MDs) are distinct neurological conditions presenting with abnormal movements. Despite sharing an overlap in phenomenology, these movements have different origins. ⋯ Additionally, we examined the therapeutic challenges as well as the anatomical and chemical pathways relevant in the interplay between epilepsy and MDs. Finally, we proposed an algorithm to guide clinicians towards the final diagnosis of conditions characterised by the co-occurrence of MDs and seizures.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2019
Comparative StudyCSF neurogranin as a neuronal damage marker in CJD: a comparative study with AD.
To investigate whether cerebrospinal fluid (CSF) neurogranin concentrations are altered in sporadic Creutzfeldt-Jakob disease (CJD), comparatively with Alzheimer's disease (AD), and associated with neuronal degeneration in brain tissue. ⋯ Neurogranin is a new biomarker of prion pathogenesis with diagnostic and prognostic abilities, which reflects the degree of neuronal damage in brain tissue in a CJD subtype manner.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2019
Misfolded SOD1 inclusions in patients with mutations in C9orf72 and other ALS/FTD-associated genes.
A hallmark of amyotrophic lateral sclerosis (ALS) caused by mutations in superoxide dismutase-1 (SOD1) are inclusions containing SOD1 in motor neurons. Here, we searched for SOD1-positive inclusions in 29 patients carrying ALS-linked mutations in six other genes. ⋯ Abundant inclusions containing misfolded SOD1WT are found in spinal and cortical motor neurons in patients carrying mutations in six ALS-causing genes other than SOD1. This suggests that misfolding of SOD1WT can be part of a common downstream event that may be pathogenic. The new anti-SOD1 therapeutics in development may have applications for a broader range of patients.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2019
Cannabis use is both independently associated with and mediates worse psychosocial health in patients with epilepsy.
To examine whether cannabis use is associated with or mediates psychosocial health in people with epilepsy. ⋯ There is a strong and independent association between cannabis use and poor psychosocial health, and it partially mediates the deleterious effect of a psychiatric history on these same outcomes. Inclusion of PROMs in future cannabis trials is warranted.