Výsledky vyhledávání - "etiology [Speech Disorders]"

Features of speech and swallowing dysfunction in pre-ataxic spinocerebellar ataxia type 2

Autor: Sebastian Contreras Cubillos, Roberto Rodríguez-Labrada, Matthis Synofzik, Tamara Canento, Winfried Ilg, Jacqueline Medrano-Montero, Yaimeé Vázquez-Mojena, Sandra Rojas, Luis Velázquez-Pérez, Melissa P. Cyngler, Fernanda Maldonado, Reidenis Torres-Vega, Megan Kruse, Michelle Magee, Adam P. Vogel

Publikováno v: Neurology 95(2), e194-e205 (2020). doi:10.1212/WNL.0000000000009776

ObjectiveTo determine whether objective and quantitative assessment of dysarthria and dysphagia in spinocerebellar ataxia type 2 (SCA2), specifically at pre-ataxic and early disease phases, can act as sensitive disease markers.MethodsForty-six indivi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d9e92e7d850a0306866ec288f2d1780
https://doi.org/10.1212/wnl.0000000000009776

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Spinocerebellar ataxia

Autor: Thomas Klockgether, Caterina Mariotti, Henry L. Paulson

Publikováno v: Nature reviews / Disease Primers 5(1), 24 (2019). doi:10.1038/s41572-019-0074-3

The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance and coordination accompanied by slurred speech; onset is most often in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ad05b5283fcfa07c8049497a94a3b5a
https://pubmed.ncbi.nlm.nih.gov/30975995

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Coordination and timing deficits in speech and swallowing in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

Autor: Dagmar Timmann, Natalie Rommel, Adam P. Vogel, Eva-Maria Kraus, Elsdon Storey, Patrick Krumm, Cynthia Gagnon, Ludger Schöls, Marius Horger, Andreas Oettinger, Lisa H. Stoll, Matthis Synofzik

Publikováno v: Journal of neurology 265(9), 2060-2070 (2018). doi:10.1007/s00415-018-8950-4

Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is a rare early onset neurodegenerative disease that typically results in ataxia, upper motor neuron dysfunction and sensorimotor peripheral neuropathy. Dysarthria and dysphagia are

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::465b3270602ecf67ab3c01466c94514e
https://pub.dzne.de/record/140167

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Comparing speech characteristics in spinocerebellar ataxias type 3 and type 6 with Friedreich ataxia

Autor: Matthis Synofzik, Ludger Schöls, Tobias Lindig, Bettina Brendel, Theresa Schölderle, Hermann Ackermann, Wolfram Ziegler

Publikováno v: Journal of neurology 262(1), 21-26 (2014). doi:10.1007/s00415-014-7511-8

Patterns of dysarthria in spinocerebellar ataxias (SCAs) and their discriminative features still remain elusive. Here we aimed to compare dysarthria profiles of patients with (SCA3 and SCA6 vs. Friedreich ataxia (FRDA), focussing on three particularl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f916cdf57df0c3c9a64ff821fa6b1dbe
https://pubmed.ncbi.nlm.nih.gov/25267338

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