Exposure to natalizumab throughout pregnancy: effectiveness and safety in an Italian cohort of women with multiple sclerosis
Conclusions Our findings indicate that in women with MS treated with NTZ before conception, continuation of NTZ throughout pregnancy and its early resumption after delivery mitigate the risk of clinical and radiological reactivation. This approach has no major impact on newborns’ outcomes. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - November 14, 2022 Category: Neurosurgery Authors: Landi, D., Bovis, F., Grimaldi, A., Annovazzi, P. O., Bertolotto, A., Bianchi, A., Borriello, G., Brescia Morra, V., Bucello, S., Buscarinu, M. C., Caleri, F., Capobianco, M., Capra, R., Cellerino, M., Centonze, D., Cerqua, R., Chisari, C. G., Clerico, M. Tags: Multiple sclerosis Source Type: research

Efficacy of pulse intravenous methylprednisolone in epileptic encephalopathy: a randomised controlled trial
This study investigated the efficacy and safety of pulse intravenous methylprednisolone (IVMP) in EE other than WS. Methods This is an open-label evaluator-blinded randomised controlled study. Children aged 6 months or more with EE other than WS were included. Eighty children were randomised into intervention and non-intervention groups with 40 in each group. At the first visit (T1) seizure frequency, electroencephalographic (EEG) and Vineland Social Maturity Scale (VSMS) were obtained, and antiseizure medication (ASM) were optimised. After 1 month (T2), subjects were randomised to intervention (ASM+3 months IVMP pulse) o...
Source: Journal of Neurology, Neurosurgery and Psychiatry - November 14, 2022 Category: Neurosurgery Authors: Rangarajan, A., Mundlamuri, R. C., Kenchaiah, R., Prathyusha, P. V., Viswanathan, L. G., Asranna, A., Chatterjee, A., Nagappa, M., Seshagiri, D. V., Kulanthaivelu, K., Bharath, R. D., Jitender, S., Thennarasu, K., Sinha, S. Tags: Epilepsy Source Type: research

Clinical features of NOTCH2NLC-related neuronal intranuclear inclusion disease
Conclusions NIID is not rare; however, it is usually misdiagnosed as other diseases. Our results help to extend the known clinical spectrum of NOTCH2NLC-related NIID. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - November 14, 2022 Category: Neurosurgery Authors: Tian, Y., Zhou, L., Gao, J., Jiao, B., Zhang, S., Xiao, Q., Xue, J., Wang, Y., liang, H., Liu, Y., Ji, G., Mao, C., Liu, C., Dong, L., Zhang, L., Zhang, S., Yi, J., Zhao, G., Luo, Y., Sun, Q., Zhou, Y., Yi, F., Chen, X., Zhou, C., Xie, N., Luo, M., Yao, L Tags: Open access Neurogenetics Source Type: research

A systematic review of adeno-associated virus gene therapies in neurology: the need for consistent safety monitoring of a promising treatment
Adeno-associated virus (AAV) gene therapies are generating much excitement in the rare disease field, particularly for previously untreatable neurological conditions. Efficacy has been claimed for several gene therapy products and the number of trials is rapidly increasing. However, reports of severe treatment-related adverse reactions are emerging, including death. There is still insufficient knowledge about their aetiology, prevention and treatment. We therefore undertook to systematically review publicly available data on AAV gene therapies in order to collate existing information on both safety and efficacy. Here, we r...
Source: Journal of Neurology, Neurosurgery and Psychiatry - November 14, 2022 Category: Neurosurgery Authors: Horton, R. H., Saade, D., Markati, T., Harriss, E., Bönnemann, C. G., Muntoni, F., Servais, L. Tags: Neurogenetics Source Type: research

Clinical and genetic analysis of familial neuromyelitis optica spectrum disorder in Chinese: associated with ubiquitin-specific peptidase USP18 gene variants
Conclusion Most clinical characteristics of familial NMOSD were indistinguishable from sporadic NMOSD except for the worst episodes severity. USP18 with impaired intronic regulatory function contributed to the pathogenesis of NMOSD. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - November 14, 2022 Category: Neurosurgery Authors: Chang, Y., Zhou, L., Zhong, X., Shi, Z., Sun, X., Wang, Y., Li, R., Long, Y., Zhou, H., Quan, C., Kermode, A. G., Yu, Q., Qiu, W. Tags: Neurogenetics Source Type: research