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Verfasst von:Ries, Markus [VerfasserIn]   i
 Mendoza, Grecia [VerfasserIn]   i
 Arash-Kaps, Laila [VerfasserIn]   i
 Amraoui, Yasmina [VerfasserIn]   i
 Quack, Folker [VerfasserIn]   i
 Hardt, Brigitte [VerfasserIn]   i
 Diederich, Stefan [VerfasserIn]   i
 Beck, Michael [VerfasserIn]   i
 Mengel, Eugen [VerfasserIn]   i
Titel:Quantitative longitudinal natural history of 8 gangliosidoses
Titelzusatz:conceptual framework and baseline data of the German 8-in-1 disease registry : a cross-sectional analysis
Verf.angabe:Markus Ries, Grecia Mendoza, Laila Arash-Kaps, Yasmina Amraoui, Folker Quack, Brigitte Hardt, Stefan Diederich, Michael Beck, Eugen Mengel
E-Jahr:2022
Jahr:4 October 2022
Umfang:10 S.
Fussnoten:Gesehen am 05.10.2022
Titel Quelle:Enthalten in: Genetics in medicine
Ort Quelle:Amsterdam : Elsevier, 1998
Jahr Quelle:2022
Band/Heft Quelle:24(2022), 12, Seite 2434-2443
ISSN Quelle:1530-0366
Abstract:PURPOSE: Gangliosidoses are a group of inherited neurogenetic autosomal recessive lysosomal storage disorders usually presenting with progressive macrocephaly, developmental delay, and regression, leading to significant morbidity and premature death. A quantitative definition of the natural history would support and enable clinical development of specific therapies. - METHODS: Single disease registry of 8 gangliosidoses (NCT04624789). Cross-sectional analysis of baseline data in N = 26 patients. Primary end point: disease severity assessed by the 8-in-1 score. Secondary end points: first neurologic sign or symptom observed (1) by parents and (2) by physicians, diagnostic delay, as well as phenotypical characterization. Tertiary end points: neurologic outcomes (development, ataxia, dexterity) and disability. - RESULTS: The 8-in-1 score quantitatively captured severity of disease. Parents recognized initial manifestations (startle reactions) earlier than physicians (motor developmental delay and hypotonia). Median diagnostic delay was 3.16 (interquartile range 0.69-6.25) years. In total, 8 patients presented with late-infantile phenotypes. - CONCLUSION: Data in this registry raise awareness of these rare and fatal conditions to accelerate diagnosis, inform counseling of afflicted families, define quantitative end points for clinical trials, and can serve as historical controls for future therapeutic studies. We provide further insight into the rare late-infantile phenotype for GM2-gangliosidosis. Longitudinal follow up is planned.
DOI:doi:10.1016/j.gim.2022.09.001
URL:Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.

Volltext: https://doi.org/10.1016/j.gim.2022.09.001
 Volltext: https://www.sciencedirect.com/science/article/pii/S1098360022009388?via%3Dihub
 DOI: https://doi.org/10.1016/j.gim.2022.09.001
Datenträger:Online-Ressource
Sprache:eng
Sach-SW:G(M1)-gangliosidosis
 G(M2)-activator deficiency
 Natural history
 Sandhoff disease
 Tay-Sachs disease
K10plus-PPN:1818060140
Verknüpfungen:→ Zeitschrift

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