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Gordon 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_207111.3:c.2061G>A). We herein report two patients with GHS caused by a novel RNF216 mutation as the first follow up report on RNF216-related GHS, and show interfamilial variability of phenotype supporting the previously reported RNF216-related cases.

Background 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. Patients were assessed at baseline and 6 months, or at the time of MG relapse. At both visits, the patients were assessed clinically and were asked to complete self-administered questionnaires for disease severity, chronic stress and depression. Personality type was assessed at baseline only. Relapsing patients were defined as those patients with MGII score increasing by more than 5.5 points from visit 1 to visit 2. Results Relapsers had higher baseline scores for depression ( p  = 0.01) and the change in disease severity correlated with the change in depression score ( r  = 0.2534, p  = 0.0015, 95% CI: 0.098 0.3961). Higher levels of stress at baseline and neuroticism predicted higher relapse rates ( p  = 0.01 and p  < .0001, respectively). In the linear regression model, with change of the MGII score as the dependent variable, change in depression scores ( p  = 0.0004) and age ( p  = 0.03) predicted change in disease severity. Conclusions Since emotional factors and personality type may influence MG, attention to these factors might improve care in MG patients.

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. Three patients presenting with neuropathy were later diagnosed with AIP on the basis of clinical features, erythrocyte porphobilinogen deaminase activity, neuropathic patterns, and nerve conduction studies. Testing for the HMBS genetic mutation confirmed the diagnosis of AIP in 1 patient. The findings from this case series confirm that porphyric neuropathy in AIP is a predominantly motor neuropathy with differing neuropathic presentations ranging from focal motor neuropathy to quadriplegia and respiratory failure.

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. Three independent reviewers performed two-stage screening and data extraction. The Review Manager 5.4 program (Cochrane Collaboration, Windows, London, UK) was used for the analysis. The Joanna Briggs Institute (JIB) tool was used for the quality of included studies. Twenty-three articles were included. NMOSD patients were associated with older age at presentation and higher Expanded Disability Status Scale (MD = 3.88, 95% CI: 1.80 to 5.97, P = 0.0003) and (MD = 1.15, 95% CI: 0.58 to 1.72, P < 0.0001), respectively. The risk of NMOSD in females was significantly higher than MS (OR = 2.21, 95% CI: 1.41 to 3.46, P = 0.0005). Patients with NMOSD were associated with a lower risk of extrapyramidal symptoms (OR = 0.26, 95% CI: 0.11 to 0.60, P < 0.01), brainstem involvement symptoms (OR = 0.32, 95% CI: 0.16 to 0.64, P < 0.01), and developing brain lesions compared to MS (OR = 0.08, 95% CI: 0.03 to 0.18, P < 0.00001). The current evidence suggests that both NMOSD and MS have different demographic, clinical, and lesion characteristics. There is a need for additional validation of the identified differences compared with MS due to the lack of long-term systematic imaging investigations in NMOSD.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. Three independent reviewers performed two-stage screening and data extraction. The Review Manager 5.4 program (Cochrane Collaboration, Windows, London, UK) was used for the analysis. The Joanna Briggs Institute (JIB) tool was used for the quality of included studies. Twenty-three articles were included. NMOSD patients were associated with older age at presentation and higher Expanded Disability Status Scale (MD = 3.88, 95% CI: 1.80 to 5.97, P = 0.0003) and (MD = 1.15, 95% CI: 0.58 to 1.72, P < 0.0001), respectively. The risk of NMOSD in females was significantly higher than MS (OR = 2.21, 95% CI: 1.41 to 3.46, P = 0.0005). Patients with NMOSD were associated with a lower risk of extrapyramidal symptoms (OR = 0.26, 95% CI: 0.11 to 0.60, P < 0.01), brainstem involvement symptoms (OR = 0.32, 95% CI: 0.16 to 0.64, P < 0.01), and developing brain lesions compared to MS (OR = 0.08, 95% CI: 0.03 to 0.18, P < 0.00001). The current evidence suggests that both NMOSD and MS have different demographic, clinical, and lesion characteristics. There is a need for additional validation of the identified differences compared with MS due to the lack of long-term systematic imaging investigations in NMOSD.