Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Dec 2022
Multicenter StudyComparing switch to ocrelizumab, cladribine or natalizumab after fingolimod treatment cessation in multiple sclerosis.
To compare the effectiveness and treatment persistence of ocrelizumab, cladribine and natalizumab in patients with relapsing-remitting multiple sclerosis switching from fingolimod. ⋯ After fingolimod cessation, ocrelizumab and natalizumab were more effective in reducing relapses than cladribine. Due to the low ARRs in all three treatment groups, additional observation time is required to determine if statistical difference in ARRs results in long-term disability differences.
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J. Neurol. Neurosurg. Psychiatr. · Dec 2022
Clinical and genetic analysis of familial neuromyelitis optica spectrum disorder in Chinese: associated with ubiquitin-specific peptidase USP18 gene variants.
Familial clustering of neuromyelitis optica spectrum disorder (NMOSD) was present in Chinese. This study was to investigate the clinical characteristics and genetic background of familial NMOSD. ⋯ 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.
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J. Neurol. Neurosurg. Psychiatr. · Dec 2022
Application of the 2021 EAN/PNS criteria for chronic inflammatory demyelinating polyneuropathy.
The diagnostic value of new criteria of the European Academy of Neurology/Peripheral Nerve Society (EAN/PNS) for chronic inflammatory demyelinating polyneuropathy (CIDP) is unknown. ⋯ The sensitivity and specificity of new EAN/PNS criteria for CIDP is equivalent to that of previous versions. The exclusion of paranodopathies and CISP from the CIDP spectrum impacts on management of a non-negligible proportion of treatment-responsive patients.
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J. Neurol. Neurosurg. Psychiatr. · Oct 2022
ReviewA novel diagnostic approach for patients with adult-onset dystonia.
Adult-onset dystonia can be acquired, inherited or idiopathic. The dystonia is usually focal or segmental and for a limited number of cases causal treatment is available. In recent years, rapid developments in neuroimmunology have led to increased knowledge on autoantibody-related dystonias. ⋯ The basic principle of the algorithm is that genetic testing is unlikely to lead to changes in management in three groups: (1) patients with an acquired form of adult-onset dystonia; (2) patients with neurodegenerative disorders, presenting with a combined movement disorder including dystonic symptoms and (3) patients with adult-onset isolated focal or segmental dystonia. Throughout the approach, focus lies on early identification of treatable forms of dystonia, either acquired or genetic. This novel diagnostic approach for adult-onset dystonia can help clinicians to decide when to perform additional tests, including genetic testing and facilitates early aetiological diagnosis, to enable timely treatment.