Please use this identifier to cite or link to this item:
https://hdl.handle.net/10316/29249
DC Field | Value | Language |
---|---|---|
dc.contributor.advisor | Silva, Eduardo | - |
dc.contributor.author | Pacheco, Mariana Teixeira Pinto Ferreira | - |
dc.date.accessioned | 2015-09-01T10:35:14Z | - |
dc.date.available | 2015-09-01T10:35:14Z | - |
dc.date.issued | 2014 | - |
dc.identifier.uri | https://hdl.handle.net/10316/29249 | - |
dc.description | Trabalho final de mestrado integrado em Medicina (Oftalmologia), apresentado à Faculdade de Medicina da Universidade de Coimbra | por |
dc.description.abstract | Hereditary Spastic Paraparesis (HSP) represents a group of genetically determined heterogeneous diseases. Mutations in the SPG7 (Paraplegin) gene, are responsible for a wide range of clinical presentations, varying from an autosomal recessive form of HSP to a form of ADON (Autossomal Dominant Optic Neuropathy), whose clinical characteristics are physiologically based on mitochondrial dysfunction. The impact of optic involvement clinically determined or revealed by supplementary diagnostic means as a clinical biomarker of HSP7 is to be valued. We present a case report of a 23 year-old, caucasian male with a childhood-onset progressive spastic paraplegia with juvenile-onset rapidly progressive severe optic neuropathy. We aim to highlight the importance of a complete ophthalmological evaluation when a facing a probable neurodegenerative disorder consistent with HSP, in order to correctly characterize the underlying clinical syndrome and efficiently request supplementary diagnostic exams | por |
dc.language.iso | eng | por |
dc.rights | openAccess | por |
dc.subject | Oftalmologia | por |
dc.subject | Atrofia girata | por |
dc.title | Spastic paraplegia with juvenile onset optic neuropathy| | por |
dc.type | masterThesis | por |
dc.peerreviewed | Yes | por |
dc.identifier.tid | 201631229 | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.openairetype | masterThesis | - |
item.cerifentitytype | Publications | - |
item.grantfulltext | open | - |
item.fulltext | Com Texto completo | - |
item.languageiso639-1 | en | - |
crisitem.advisor.researchunit | CNC - Center for Neuroscience and Cell Biology | - |
crisitem.advisor.orcid | 0000-0002-2739-9854 | - |
Appears in Collections: | UC - Dissertações de Mestrado FMUC Medicina - Teses de Mestrado |
Files in This Item:
File | Description | Size | Format | |
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Mariana Pacheco.pdf | 959.05 kB | Adobe PDF | View/Open |
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