Journal of the neurological sciences
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Encephalitis associated with antibodies to the N-methyl D-aspartate receptor (NMDA-R) was first described in young women with ovarian teratoma. It has subsequently been described in men, children and in those without an underlying tumour. ⋯ Spinal cord disease in association with other typical clinical features has been described in only one patient previously. We report a patient presenting with myelitis, with typical features of NMDA-R associated encephalitis manifesting 3 months later.
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To present results from the United States Cluster Headache Survey regarding gender differences in cluster headache demographics, clinical characteristics, diagnostic delay, triggers, treatment response and personal burden. ⋯ Overall women and men with cluster headache have a similar presentation but there are some distinct differences that have been suggested in smaller studies of female cluster headache that we have now verified, while some of our study conclusions have not been shown previously. One major limitation to the study is a lack of validation of diagnosis. A substantial false positive cluster headache diagnosis rate, especially in females, cannot be excluded by the study methods utilized.
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Periodic limb movements during sleep (PLMS) sometimes newly appear on the night of continuous positive airway pressure (CPAP) titration in patients with obstructive sleep apnea syndrome (OSAS). To ascertain the incidence and causative factors of this phenomenon, we investigated differences in its prevalence and the factors associated with newly appeared and persistent PLMS on CPAP titration night. We retrospectively analyzed polysomnographic data of 997 consecutive OSAS outpatients who had undergone overnight CPAP titration. ⋯ The rate of patients was 6.7% in the persistent group, 8.0% in the CPAP-emergent group, 4.0% in the CPAP-disappearance group, and 81.2% in the non-PLMS group. Multivariate logistic regression analysis revealed that a higher apnea-hypopnea index (AHI) on BPSG and ≥47years of age appeared to be associated with the CPAP-emergent group. The results suggest that elderly patients with higher AHI at BPSG may present with CPAP-emergent PLMS.
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Comparative Study
Cırcadian changes in cortical excitability in restless legs syndrome.
Various investigations have revealed a widespread and somewhat controversial pattern of cerebral, cerebellar and brainstem involvement in the pathophysiology of restless legs syndrome (RLS). However, several studies which investigated functional or structural aspects indicated cortical involvement in RLS. In this study, we aimed to analyze circadian changes of cortical excitability in idiopathic RLS patients by means of transcranial magnetic stimulation (TMS). ⋯ At night, cortical silent periods tended to shorten, and motor thresholds tended to decrease in the RLS group, whereas in controls they tended to increase. At night, active motor-threshold measurements were significantly lower in the RLS group (28.5 ± 6.2% vs 40.4 ± 8.4%, p=0.006). Therefore, we propose that in patients with RLS, conduction along the motor corticospinal axons is normal, with the possible loss of subcortical inhibition at nighttime.
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Case Reports
A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome.
Congenital myasthenic syndromes (CMS) are rare genetic disorders characterized by impaired neuromuscular transmission. They are caused by mutations in synaptic, presynaptic and post synaptic proteins. ⋯ We describe a Persian Jewish family with two siblings affected with typical CMS, harboring the common heterozygous (-38A-G) E-box mutation associated with a previously unreported heterozygous p.224 insT causing an insertion of Threonine in the TPR6 domain. To the best of our knowledge, this is the first mutation in the TPR6 domain and might give supportive evidence to the role of this domain in rapsyn self association and consequently co-clustering with AchR in the post synaptic membrane.