European journal of neurology : the official journal of the European Federation of Neurological Societies
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Hereditary sensory and autonomic neuropathies (HSANs) are a group of clinically and genetically heterogeneous neurological disorders characterized by sensory dysfunctions. Here, 21 affected Chinese families are reported, including 19 with congenital insensitivity to pain with anhidrosis (CIPA; namely HSAN IV) and two with congenital insensitivity to pain (CIP; namely HSAN IID) caused by biallelic variations in NTRK1 and SCN9A, respectively, aiming to identify causative variants in these families and compare how different variants in NTRK1 affect the function of tropomyosin receptor kinase A (TrkA). ⋯ This study identified multiple forms of variants responsible for CIPA/CIP in the Chinese population and might provide new insights into the pathogenesis of CIPA.
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The purpose was to investigate our centre's experience on computed-tomography-guided (CT-guided), transforaminal, intrathecal administration of nusinersen in adult subjects with spinal muscular atrophy (SMA) type 2 and severe spinal deformity. ⋯ In this retrospective series, CT-guided transforaminal access for intrathecal injection of nusinersen was proven feasible and safe. A decrease in radiation dose over time was noted. Protocols to minimize radiation exposure are essential.
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The management options for chronic cluster headache (CCH) are limited and a significant proportion of patients become refractory to pharmacological treatments. Pulsed radiofrequency (PRF) of the sphenopalatine ganglion (SPG) may present an efficacious, minimally invasive treatment modality for patients with refractory CCH. We describe the clinical outcomes of 14 patients with refractory CCH treated with PRF of the SPG. ⋯ This case series suggests that PRF targeting the SPG might offer a safe, minimally invasive and effective treatment for medically refractory CCH. Given the small number of cases and the short follow-up, larger and more robust studies will be needed to confirm our findings.
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This study aimed to evaluate serum neurofilament light chain (NF-L) levels in former professional contact sports athletes with multiple concussions (ExPro) as a potential biomarker of neurodegeneration and predictor of white-matter (WM) abnormality progression. ⋯ NF-L levels reflect neuronal changes in the ExPro group and predict the extent of decrease in white matter integrity over time. Serum NF-L might be a biomarker of neurodegeneration and WM abnormality progression in ExPro.