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Krenn, M.* ; Sener, M.* ; Rath, J.* ; Zulehner, G.* ; Keritam, O.* ; Wagner, M. ; Laccone, F.* ; Iglseder, S.* ; Marte, S.* ; Baumgartner, M.* ; Eisenkölbl, A.* ; Liechtenstein, C.* ; Rudnik, S.* ; Quasthoff, S.* ; Grinzinger, S.* ; Spenger, J.* ; Wortmann, S.B.* ; Löscher, W.N.* ; Zimprich, F.* ; Kellersmann, A.* ; Rappold, M.* ; Bernert, G.* ; Freilinger, M.* ; Cetin, H.*

The clinical and molecular landscape of congenital myasthenic syndromes in Austria: A nationwide study.

J. Neurol. 270, 909-916 (2023)
Verlagsversion Forschungsdaten DOI PMC
Open Access Gold (Paid Option)
Creative Commons Lizenzvertrag
Background: Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects resulting in impaired neuromuscular transmission. Although effective treatments are available, CMS is probably underdiagnosed, and systematic clinico-genetic investigations are warranted. Methods: We used a nationwide approach to collect Austrian patients with genetically confirmed CMS. We provide a clinical and molecular characterization of this cohort and aimed to ascertain the current frequency of CMS in Austria. Results: Twenty-eight cases with genetically confirmed CMS were identified, corresponding to an overall prevalence of 3.1 per million (95% CI 2.0–4.3) in Austria. The most frequent genetic etiology was CHRNE (n = 13), accounting for 46.4% of the cohort. Within this subgroup, the variant c.1327del, p.(Glu443Lysfs*64) was detected in nine individuals. Moreover, causative variants were found in DOK7 (n = 4), RAPSN (n = 3), COLQ (n = 2), GMPPB (n = 2), CHAT (n = 1), COL13A1 (n = 1), MUSK (n = 1) and AGRN (n = 1). Clinical onset within the first year of life was reported in one half of the patients. Across all subtypes, the most common symptoms were ptosis (85.7%), lower limb (67.9%), upper limb (60.7%) and facial weakness (60.7%). The majority of patients (96.4%) received specific treatment, including acetylcholinesterase inhibitors in 20, adrenergic agonists in 11 and 3,4-diaminopyridine in nine patients. Conclusions: Our study presents the first systematic characterization of individuals with CMS in Austria, providing prevalence estimates and genotype–phenotype correlations that may help to improve the diagnostic approach and patient management.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
Schlagwörter Austria ; Chrne ; Congenital Myasthenic Syndrome ; Myasthenia
ISSN (print) / ISBN 0340-5354
e-ISSN 1432-1459
Zeitschrift Journal of Neurology
Quellenangaben Band: 270, Heft: 2, Seiten: 909-916 Artikelnummer: , Supplement: ,
Verlag Springer
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
Förderungen Medical University of Vienna