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Autor
Abel, Larry 1 Amraoui, Yasmina 1 Ardissone, Anna 1 Bardins, Stanislavs 1 Brecht, Andreas 1 Bremova-Ertl, Tatiana 1 Gascón Bayarri, Jordi 1 Kolb, Stefan A 1 Kolníková, Miriam 1 Malinová, Věra 1 Mengel, Eugen 1 Reza Ashrafi, Mahmoud 1 Reza Tavasoli, Ali 1 Salsano, Ettore 1 Strupp, Michael 1 Walterfang, Mark 1
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Pracoviště
Actelion a Janssen company of Johnson... 1 Center for Rare Diseases University H... 1 Department of Child Neurology Comeniu... 1 Department of Neurology Hospital Univ... 1 Department of Neurology University Ho... 1 Department of Pediatrics and Adolesce... 1 German Center for Vertigo and Balance... 1 Melbourne Neuropsychiatry Centre Univ... 1 Neuropsychiatry Unit Royal Melbourne ... 1 Optometry and Vision Science School o... 1 Pediatric Neurology Division Children... 1 SphinCS Gmbh Clinical Science for LSD... 1 Unit of Rare Neurodegenerative and Ne... 1
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Autor
Abel, Larry 1 Amraoui, Yasmina 1 Ardissone, Anna 1 Bardins, Stanislavs 1 Brecht, Andreas 1 Bremova-Ertl, Tatiana 1 Gascón Bayarri, Jordi 1 Kolb, Stefan A 1 Kolníková, Miriam 1 Malinová, Věra 1 Mengel, Eugen 1 Reza Ashrafi, Mahmoud 1 Reza Tavasoli, Ali 1 Salsano, Ettore 1 Strupp, Michael 1 Walterfang, Mark 1
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Pracoviště
Actelion a Janssen company of Johnson... 1 Center for Rare Diseases University H... 1 Department of Child Neurology Comeniu... 1 Department of Neurology Hospital Univ... 1 Department of Neurology University Ho... 1 Department of Pediatrics and Adolesce... 1 German Center for Vertigo and Balance... 1 Melbourne Neuropsychiatry Centre Univ... 1 Neuropsychiatry Unit Royal Melbourne ... 1 Optometry and Vision Science School o... 1 Pediatric Neurology Division Children... 1 SphinCS Gmbh Clinical Science for LSD... 1 Unit of Rare Neurodegenerative and Ne... 1
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NLK
Wiley-Blackwell Open Access Titles
od 1997
PubMed
34096670
DOI
10.1111/ene.14955
Knihovny.cz E-zdroje
OBJECTIVE: To characterize ocular motor function in patients with Niemann-Pick disease type C (NPC). METHODS: In a multicontinental, cross-sectional study we characterized ocular-motor function in 72 patients from 12 countries by video-oculography. Interlinking with disease severity, we also searched for ocular motor biomarkers. Our study protocol comprised reflexive and self-paced saccades, smooth pursuit, and gaze-holding in horizontal and vertical planes. Data were compared with those of 158 healthy controls (HC). RESULTS: Some 98.2% of patients generated vertical saccades below the 95% CI of the controls' peak velocity. Only 46.9% of patients had smooth pursuit gain lower than that of 95% CI of HC. The involvement in both downward and upward directions was similar (51°/s (68.9, [32.7-69.3]) downward versus 78.8°/s (65.9, [60.8-96.8]) upward). Horizontal saccadic peak velocity and latency, vertical saccadic duration and amplitude, and horizontal position smooth pursuit correlated best to disease severity. Compensating strategies such as blinks to elicit saccades, and head and upper body movements to overcome the gaze palsy, were observed. Vertical reflexive saccades were more impaired and slower than self-paced ones. Gaze-holding was normal. Ocular-motor performance depended on the age of onset and disease duration. CONCLUSIONS: This is the largest cohort of NPC patients investigated for ocular-motor function. Vertical supranuclear saccade palsy is the hallmark of NPC. Vertical upward and downward saccades are equally impaired. Horizontal saccadic peak velocity and latency, vertical saccadic duration and amplitude, and horizontal position smooth pursuit can be used as surrogate parameters for clinical trials. Compensating strategies can contribute to establishing a diagnosis.
- MeSH
- lidé MeSH
- Niemannova-Pickova nemoc typu C * MeSH
- pohyby očí MeSH
- prospektivní studie MeSH
- průřezové studie MeSH
- sakadické oční pohyby MeSH
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- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
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