Neuromyelitis optica spectrum disorders (NMOSDs) are central nervous system inflammatory conditions, now recognized to involve the brain, often identified by aquaporin-4 (AQP4) antibodies. We aimed to summarize the characteristics of adult NMOSD patients compared to multiple sclerosis (MS). A computerized search was conducted on MEDLINE via PubMed, Web of Science, and ProQuest using the relevant keywords.
View Article and Find Full Text PDFBackground: Psychopathology and personality traits may influence the course of autoimmune disorders. With this prospective longitudinal cohort study, we aimed to assess personality, stress and depression in myasthenia patients who relapse and those who remain stable or improve (non-relapsers).
Method: We collected data from 155 consecutive adult patients with confirmed MG attending the Neuromuscular Clinic, Toronto General Hospital, between March 2017 and July 2018, for this study.
The porphyrias are metabolic disorders due to a defect in the heme biosynthetic pathway. Patients have diverse clinical presentations with neuropathy being frequent in acute intermittent porphyria (AIP). Associated symptoms are abdominal pain and seizures.
View Article and Find Full Text PDFBrucellosis is a multisystem zoonotic disease. We report an unusual case of neurobrucellosis with seizures in an immunocompromised patient in Saudi Arabia who underwent renal transplantation. Magnetic resonance imaging of the brain showed diffuse white matter lesions.
View Article and Find Full Text PDFInt J Health Sci (Qassim)
October 2016
Holmes tremor is a rare symptomatic movement disorder, characterized by a combination of resting, postural, and action tremors. It is usually caused by lesions involving the brainstem, thalamus, and cerebellum. It is often difficult to treat, many medications have been used with varying degrees of success.
View Article and Find Full Text PDFGordon Holmes syndrome (GHS) is a distinct phenotype of autosomal recessive cerebellar ataxia, characterized by ataxia, dementia, reproductive defects and hypogonadism; it has been recently found to be associated with RNF216 mutation. We performed whole-exome sequencing and filtered the resulting novel variants by the coordinates of the shared autozygome. We identified a novel splicing variant in RNF216 that is likely to abolish the canonical splice site at the junction of exon/intron 13 (NM_207111.
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