Zobrazeno 1 - 9 of 9 pro vyhledávání: '"complications [Ataxia]"'
1
Natural History of Polymerase Gamma–Related Ataxia
Autor: Benjamin Bender, Astrid Adarmes-Gómez, Andreas Thieme, Ludger Schöls, Friedemann Bender, Dagmar Timmann, Matthis Synofzik, Bart P.C. van de Warrenburg
Publikováno v: Digital.CSIC. Repositorio Institucional del CSIC
instname
Movement Disorders, 36, 11, pp. 2642-2652
Movement Disorders, 36, 2642-2652
Movement disorders 36(11), 2642-2652 (2021). doi:10.1002/mds.28713
[Background] Mutations in the mitochondrial DNA polymerase gamma are causing a wide phenotypic spectrum including ataxia as one of the most common presentations.
[Objective] The objective of this study was to determine the course of disease of p
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87c4979f9b798047960fc9a9c58a7cdd
http://hdl.handle.net/10261/269696
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2
Speech and swallowing abnormalities in adults with POLG associated ataxia (POLG-A)
Autor: Patrick Krumm, Andreas Oettinger, Marius Horger, Adam P. Vogel, Matthis Synofzik, Natalie Rommel, Eva-Maria Kraus, Ludger Schöls
Publikováno v: Mitochondrion 37, 1-7 (2017). doi:10.1016/j.mito.2017.06.002
Background Mutations in the nuclear-encoded mitochondrial DNA polymerase gamma (POLG) can result in a wide spectrum of neurological deficits. A common presentation is progressive ataxia (POLG-A) which includes impaired speech and swallowing. The natu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0293ada2a093d51cfbab6046fd294ddd
https://doi.org/10.1016/j.mito.2017.06.002
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3
Identifying Niemann–Pick type C in early-onset ataxia: two quick clinical screening tools
Autor: Peter Bauer, Jennifer Just, Ludger Schöls, Stefan A. Kolb, Juan V. Torres Martin, Zofia Fleszar, Matthis Synofzik
Publikováno v: Journal of Neurology
Journal of neurology 263(10), 1911-1918 (2016). doi:10.1007/s00415-016-8178-0
Niemann–Pick disease type C (NP-C) is a rare multisystemic lysosomal disorder which, albeit treatable, is still starkly underdiagnosed. As NP-C features early onset ataxia (EOA) in 85–90 % of cases, EOA presents a promising target group for undia
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72a68041fef285d6971d79285c27128d
http://europepmc.org/articles/PMC5037150
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4
Clinical assessment of dysphagia in neurodegeneration (CADN): development, validity and reliability of a bedside tool for dysphagia assessment
Autor: Marius Horger, Natalie Rommel, Patrick Krumm, Carina Sauer, Marc Himmelbach, Matthis Synofzik, Adam P. Vogel
Publikováno v: Journal of neurology 264(6), 1107-1117 (2017). doi:10.1007/s00415-017-8499-7
Screening assessments for dysphagia are essential in neurodegenerative disease. Yet there are no purpose-built tools to quantify swallowing deficits at bedside or in clinical trials. A quantifiable, brief, easy to administer assessment that measures
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64e9294b35996e5709c15c8b2234b315
https://pub.dzne.de/record/139321
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6
Leukodystrophies in idiopathic adult-onset ataxia: frequency and phenotype in 105 patients
Autor: Ludger Schöls, Jennifer Müller vom Hagen, Matthis Synofzik, Ingeborg Krägeloh-Mann, Julia Schicks
Publikováno v: Movement disorders 28(14), 2033-2035 (2013). doi:10.1002/mds.25617
Here, we systemati-cally screened a representative cohort of patients with adult-onset ataxia for underlying leukodystrophies and analyzedits phenotypic presentation.One hundred five ataxia patients from independent fami-lies were recruited as a con
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc40d033e8a508ecb9133b0276d860e4
https://pubmed.ncbi.nlm.nih.gov/23926051
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7
Progressive ataxia associated with scarring skin lesions and vertical gaze palsy
Autor: Odette Schunke, Stefanie Kleinmichel, Christian Gerloff, Simone Zittel, Alexander Münchau, Saskia Biskup, Christos Ganos
Publikováno v: Movement disorders 28(4), 443-445 (2013). doi:10.1002/mds.25363
Xeroderma pigmentosum (XP) is a rare autosomal-recessive disease (prevalence of 1:200,000 in whites) characterized by hypersensitivity to ultraviolet (UV) radiation because of faulty DNA repair, leading to early-onset recurrent sunburns with cutaneou
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37abaaa9ca98f4340dda2d1c7cad9e69
https://pub.dzne.de/record/164320
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8
Video game-based coordinative training improves ataxia in children with degenerative ataxia
Autor: Cornelia Schatton, Martin A. Giese, Julia Schicks, Winfried Ilg, Matthis Synofzik, Ludger Schöls
Publikováno v: Neurology 79(20), 2056-2060 (2012). doi:10.1212/WNL.0b013e3182749e67
Objective: Degenerative ataxias in children present a rare condition where effective treatments are lacking. Intensive coordinative training based on physiotherapeutic exercises improves degenerative ataxia in adults, but such exercises have drawback
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71253cff892b00b13da344866da20a70
https://pubmed.ncbi.nlm.nih.gov/23115212
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9
A case of nocturnal frontal lobe epilepsy in a patient with spinocerebellar ataxia type 17
Autor: Sara Musho-Ilbeh, Fabrizio Monti, Marco Belluzzo, Gilberto Pizzolato
Publikováno v: Seizure. 21(10)
Nocturnal frontal lobe epilepsy (NFLE) comprises a complex spectrum of distinct paroxysmal sleep-related attacks of variable intensity, including paroxysmal arousals, nocturnal paroxysmal dystonias and epileptic nocturnal wanderings. Scalp EEG and br
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e21ab3c9c5062192df63828cd661d75
https://pubmed.ncbi.nlm.nih.gov/22999214
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