JAMA Neurology Online First http://www.elizeaboutbeauty.com/journals/jamaneurology en-us Mon, 19 Apr 2021 00:00:00 GMT Mon, 19 Apr 2021 11:43:37 GMT Silverchair jamams@jamanetwork.org support@www.elizeaboutbeauty.com Hyoid Bone Syndrome With Sympathetic Symptoms http://www.elizeaboutbeauty.com/journals/jamaneurology/fullarticle/2778360 Mon, 19 Apr 2021 00:00:00 GMT Wang R, Yuan H, Dong Z. This case report describes a 22-year-old man with hyoid bone syndrome with sympathetic symptoms that fully resolved after excision of the left greater horn and the superior cornu of thyroid cartilage. 10.1001/jamaneurol.2021.0750 2778360 Questions on NOTCH2NLC Repeat Expansions in Parkinson Disease http://www.elizeaboutbeauty.com/journals/jamaneurology/fullarticle/2778359 Mon, 19 Apr 2021 00:00:00 GMT Yau W, Houlden H, Vandrovcova J. To the Editor In the case-control study by Ma et al, the authors demonstrated an association between patients with sporadic Parkinson disease (PD) and NOTCH2NLC repeat expansions; 3 patients had GGC repeat expansions above the pathogenic threshold (>64 repeats), while 10 patients were in the intermediate range (41-64 repeats). These repeat expansions in NOTCH2NLC were recently discovered to cause adult-onset neuronal intranuclear inclusion disease (NIID), in which movement disorders are protean manifestations of the disease. However, key questions remains as to whether GGC repeat expansions in NOTCH2NLC are a novel monogenetic cause of PD and whether these patients represent a PD phenocopy of NIID. Both NIID and PD have distinctive histopathological features. Neuronal intranuclear inclusion disease is characterized by widespread eosinophilic neuronal and glial intranuclear inclusions that are positive for antiubiquitin antibody and anti–small ubiquitin-related modifier (SUMO) antibody; the same intranuclear inclusions can be seen in dermal cells. In contrast, the distinguishing pathological feature of PD is dopaminergic, neuromelanin-containing neuronal loss in the substantia nigra pars compacta, accompanied by intraneuronal inclusions called Lewy bodies. Three previously reported families with classic PD symptoms and GGC repeat expansions in NOTCH2NLC all possessed the hallmark features of NIID in their skin biopsies. Although establishing a causal link between NOTCH2NLC repeat expansion and PD was not an objective of the study by Ma et al, the authors may consider examining their patientsâ€?skin biopsy or postmortem brain tissue, if available, to help answer this clinically relevant question. Furthermore, we performed repeat-primed polymerase chain reaction and bioinformatic screening of the GGC repeat expansions in NOTCH2NLC in 1208 White patients with PD but did not identify any positive cases. We had previously used a similar method to identify 1 patient with a typical NIID phenotype and inclusions on skin biopsy. Given that all the patients with PD identified in the study by Ma et al were Chinese, we posit that the association between these repeat expansions and PD may vary in different ethnic populations. To ascertain the role of NOTCH2NLC in the pathogenesis of PD, we agree with the authors that further longitudinal clinic-pathological study of patients with PD carrying these repeat expansions would be pertinent. 10.1001/jamaneurol.2021.0747 2778359 Questions on NOTCH2NLC Repeat Expansions in Parkinson Disease—Reply http://www.elizeaboutbeauty.com/journals/jamaneurology/fullarticle/2778358 Mon, 19 Apr 2021 00:00:00 GMT Ma D, Tan Y, Tan E. In Reply We appreciate the interest shown by Yau and colleagues for our recent article. They have previously highlighted an absence of abnormal NOTCH2NLC GGC repeat expansions in a sample of White patients with PD. 10.1001/jamaneurol.2021.0768 2778358 Intracranial Hypertension on Magnetic Resonance Imaging and Association With Papilledema http://www.elizeaboutbeauty.com/journals/jamaneurology/fullarticle/2778357 Mon, 19 Apr 2021 00:00:00 GMT Chen BS, Meyer BI, Saindane AM, et al. This cross-sectional study examines the prevalence of incidentally detected signs of intracranial hypertension on magnetic resonance imaging and assesses whether these radiographic signs are associated with papilledema among adult patients. 10.1001/jamaneurol.2021.0710 2778357 Discontinuation of Disease-Modifying Therapy in Multiple Sclerosis http://www.elizeaboutbeauty.com/journals/jamaneurology/fullarticle/2778356 Mon, 19 Apr 2021 00:00:00 GMT Strijbis EM, Kerbrat A, Corboy JR. This Viewpoint discusses the long-term effects of disease-modifying therapy in patients with multiple sclerosis and discusses the potential of discontinuing it in older patients. 10.1001/jamaneurol.2021.0764 2778356 Error in Title and Text http://www.elizeaboutbeauty.com/journals/jamaneurology/fullarticle/2778098 Mon, 12 Apr 2021 00:00:00 GMT The Images in Neurology article “Autoimmune Glial Fibrillary Acidic Protein Astrocytopathy With the Detection of Anti-GM3 and Anti-GM4 IgG Antibodies, Masquerading as Brown-Sequared Syndrome,â€?published in the January 2021 issue, had an error in the spelling of the eponym “Sequardâ€?(as “Sequaredâ€? in the title and throughout the text. The error has been corrected online. 10.1001/jamaneurol.2021.0896 2778098 Electronic Cigarette Use and Cigarette-Smoking Cessation Attempts Among Stroke Survivors in the US http://www.elizeaboutbeauty.com/journals/jamaneurology/fullarticle/2778097 Mon, 12 Apr 2021 00:00:00 GMT Parikh NS, Navi BB, Merkler AE, et al. This cross-sectional study estimates the prevalence of electronic cigarette use among actively smoking stroke survivors in the US and evaluates its association with at least 1 cigarette-smoking cessation attempt in the past year. 10.1001/jamaneurol.2021.0636 2778097 The Impact of Stuttering—Hiding in Plain Sight http://www.elizeaboutbeauty.com/journals/jamaneurology/fullarticle/2778096 Mon, 12 Apr 2021 00:00:00 GMT Briley PM, Ellis C, Jr, Jacobs MM. This Viewpoint discusses the mechanics and misconceptions of stuttering and the importance of a multidisciplinary approach in the study and treatment of people who stutter. 10.1001/jamaneurol.2021.0633 2778096 4887王中王鉄算 盘开奖结果小说