Teaching Video NeuroImage: Clues in Myoclonus Evaluation
| Autor: | Vélez Gómez, Beatriz, Jesús Maestre, Silvia, Macías García, Daniel, Lechón, Beatriz, Mir, Pablo |
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| Přispěvatelé: | Ministerio de Ciencia e Innovación (España), Instituto de Salud Carlos III, European Commission, Junta de Andalucía, Fundación Alicia Koplowitz |
| Rok vydání: | 2021 |
| Zdroj: | Digital.CSIC. Repositorio Institucional del CSIC instname |
| Popis: | A 53-year-old woman was presented for the evaluation of visual disturbances, generalized and multifocal myoclonus, and progressive ataxia that began at age 30 years (cf. Video 1). Bilateral cherry-red spots in the macula (figure) and a cortical origin in the EEG-EMG coregistration with back-averaging were observed. Reduced neuraminidase activity in fibroblasts and the homozygous mutation c.403G>A in the NEU1 gene confirmed the diagnosis of sialidosis type I. This research was supported by grants from the Spanish Ministry of Science and Innovation [RTC2019-007150-1], the Instituto de Salud Carlos III-Fondo Europeo de Desarrollo Regional (ISCIII-FEDER) [PI14/01823, PI16/01575, PI18/01898, and PI19/01576], the Consejería de Economía, Innovación, Ciencia y Empleo de la Junta de Andalucía [CVI-02526 and CTS-7685], the Consejería de Salud y Bienestar Social de la Junta de Andalucía [PI-0471-2013, PE-0210-2018, PI-0459-2018, and PE-0186-2019], and the Fundación Alicia Koplowitz. Silvia Jesús has a “Acción B Clínicos-Investigadores” (Action B Clinicians-Researchers) contract [B-0007-2019] funded by the “Consejería de Salud y Familiar,” and Daniel Macías-García has a Río Hortega contract [CM18/00142] funded by the Health Institute Carlos III. |
| Databáze: | OpenAIRE |
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