Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant recurrent neuropathy affecting the brachial plexus. HNA is triggered by environmental factors such as infection or parturition. We report three mutations in the gene septin 9 (SEPT9) in six families with HNA linked to chromosome 17q25. HNA is the first monogenetic disease caused by mutations in a gene of the septin family. Septins are implicated in formation of the cytoskeleton, cell division and tumorigenesis.
Background and Purpose-Strokes have especially devastating implications if they occur early in life; however, only limited information exists on the characteristics of acute cerebrovascular disease in young adults. Although risk factors and manifestation of atherosclerosis are commonly associated with stroke in the elderly, recent data suggests different causes for stroke in the young. We initiated the prospective, multinational European study Stroke in Young Fabry Patients (sifap) to characterize a cohort of young stroke patients. Methods-Overall, 5023 patients aged 18 to 55 years with the diagnosis of ischemic stroke (3396) *Drs Rolfs, Fazekas and Grittner contributed equally to this work. Authors contributions: Dr Rolfs has conceptualized, initiated, and designed and organized the study, has been involved in the recruitment of the patients, and wrote significant parts of the manuscript. Dr Fazekas was involved in the study planning and has done together with Drs Enzinger and Schmidt the analysis of all MRI scans; this group was mainly involved in the statistical analysis of the MRI data. Drs Martus, Grittner, Holzhausen have taken responsibility for all statistical analysis and for the data structure of the total data bank. Drs Dichgans, Böttcher, Tatlisumak, Tanislav, Jungehulsing, Putaala, Huber, Bodechtel, Lichy, Hennerici, Kaps, Meyer, Kessler have been most active in the recruitment of the patients, drafting the manuscript and significantly influencing the scientific discussion. Dr Heuschmann was involved in drafting the manuscript and influencing the scientific discussion. Dr Norrving chaired the steering and publication committees of sifap, has written parts of the manuscript, and has significantly influenced the scientific discussions. Drs Lackner and Paschke, H. Mascher, Dr Riess have been involved in the laboratory analyses. Dr Kolodny has mostly contributed to the discussion of the Fabry cases. Dr Giese assisted in writing and editing the manuscript. All authors have reviewed, critically revised and approved the final version of the manuscript.The sponsors of the study had no role in the study design, data collection, data analysis, interpretation, writing of the manuscript, or the decision to submit the manuscript for publication. The academic authors had unrestricted access to the derived dataset, and assume full responsibility for the completeness, integrity, and interpretation of the data, as well as writing the study report and the decision to submit for publication.†Listed in Appendix I in the online-only Data Supplement. Jeffrey L. Saver, MD, was guest editor for this article.
Background:Risk stratification can contribute to individualised optimal secondary prevention in patients with cerebrovascular disease.Objective:To prospectively investigate the prediction of the Essen Stroke Risk Score (ESRS) and a pathological Ankle Brachial Index (ABI) in consecutive patients hospitalised with acute ischaemic stroke or transient ischaemic attack (TIA) in 85 neurological stroke units throughout Germany.Methods:852 patients were prospectively documented on standardised case report forms, including assessment of ESRS and ABI. After 17.5 months, recurrent cerebrovascular events, functional outcome or death could be assessed in 729 patients predominantly via central telephone interview.Results:After discharge from the documenting hospital, recurrent stroke occurred in 41 patients (5.6%) and recurrent TIA in 15 patients (2.1%). 52 patients (7.1%) had died, 33 (4.5%) from cardiovascular causes. Patients with an ESRS ⩾3 (vs <3) had a significantly higher risk of recurrent stroke or cardiovascular death (9.7% vs 5.1%; odds ratio (OR) 2.00, 95% confidence interval (CI) 1.08 to 3.70) and a higher recurrent stroke risk (6.9% vs 3.7%; OR 1.93, 95% CI 0.95 to 3.94). Patients with an ABI ⩽0.9 (vs >0.9) had a significantly higher risk of recurrent stroke or cardiovascular death (10.4% vs 5.5%; OR 2.00, 95% CI 1.12 to 3.56) and a higher recurrent stroke risk (6.6% vs 4.6%; OR 1.47, 95% CI 0.76 to 2.83).Conclusion:Our prospective follow-up study shows a significantly higher rate of recurrent stroke or cardiovascular death and a clear trend for a higher rate of recurrent stroke in patients with acute cerebrovascular events classified as high risk by an ESRS ⩾3 or a pathological ABI.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.