Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Aug 2023
Clinical phenotypic diversity of NOTCH2NLC-related disease in the largest case series of inherited peripheral neuropathy in Japan.
NOTCH2NLC GGC repeat expansions have been associated with various neurogenerative disorders, including neuronal intranuclear inclusion disease and inherited peripheral neuropathies (IPNs). However, only a few NOTCH2NLC-related disease studies in IPN have been reported, and the clinical and genetic spectra remain unclear. Thus, this study aimed to describe the clinical and genetic manifestations of NOTCH2NLC-related IPNs. ⋯ These findings of this study help us understand the clinical heterogeneity of NOTCH2NLC-related disease, such as non-length-dependent motor dominant phenotype and prominent autonomic involvement. This study also emphasise the importance of genetic screening, regardless of the age of onset and type of CMT, particularly in patients of Asian origin, presenting with intermediate conduction velocities and dysautonomia.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2023
Meta AnalysisDecompression alone versus decompression with instrumented fusion in the treatment of lumbar degenerative spondylolisthesis: a systematic review and meta-analysis of randomised trials.
To determine the efficacy of adding instrumented spinal fusion to decompression to treat degenerative spondylolisthesis (DS). ⋯ CRD42022308267.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2023
ReviewRecent advances in neuroanatomy: the myotome update.
The myotome of a muscle is the basis for diagnosing spinal and peripheral nerve disorders. Despite its critical importance in clinical neurology, myotome charts presented in many textbooks, surprisingly, show non-negligible discordances with each other. Many authors do not even clearly state the bases of their charts. ⋯ T1 innervation of the median intrinsic hand muscles is a typical example. We have added a number of new findings, such as T1 innervation of the forearm flexor muscles innervated by the median nerve except the pronator teres and flexor carpi radialis, C5 innervation of the brachioradialis, and two C6 indicator muscles, pronator teres and extensor carpi radialis brevis. Increased accuracy of the myotome charts will improve the localisation in neurology.
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J. Neurol. Neurosurg. Psychiatr. · Aug 2023
Unclassified clinical presentations of chronic inflammatory demyelinating polyradiculoneuropathy.
To assess the ability of the 2021 European Academy of Neurology/Peripheral Nerve Society (EAN/PNS) clinical criteria for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) to include within their classification the whole spectrum of clinical heterogeneity of the disease and to define the clinical characteristics of the unclassifiable clinical forms. ⋯ A proportion of patients with CIDP do not strictly fulfil the 2021 EAN/PNS clinical criteria for diagnosis. These unclassifiable clinical phenotypes may pose diagnostic challenges and thus deserve more attention in clinical practice and research.