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AP4S1 Splice-Site Mutation in a Case of Spastic Paraplegia Type 52 with Polymicrogyria

2018-10Journal article Open access
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dc.contributor.authorCarmona, S
dc.contributor.authorMarecos, C
dc.contributor.authorAmorim, M
dc.contributor.authorFerreira, AC
dc.contributor.authorConceição, C
dc.contributor.authorBrás, J
dc.contributor.authorDuarte, ST
dc.contributor.authorGuerreiro, R
dc.date.accessioned2018-10-22T12:04:37Z
dc.date.available2018-10-22T12:04:37Z
dc.date.issued2018-10
dc.description.abstractHereditary spastic paraplegias (HSPs) are a group of rare inherited neurodegenerative disorders that result from primary retrograde dysfunction of the long descending fibers of the corticospinal tract, causing lower limb spasticity and muscular weakness. This group of diseases has a heterogeneous clinical presentation. An extensive list of associated genes, different inheritance patterns, and ages at onset have been reported in HSPs.1 Spastic paraplegia type 52 (SPG52) is an autosomal recessive disease caused by AP4S mutations. The disease is characterized by neonatal hypotonia that progresses to hypertonia and spasticity in early childhood, developmental delay, mental retardation, and poor or absent speech. Febrile or afebrile seizures may also occur.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationNeurol Genet. 2018 Sep 19;4(5):e273pt_PT
dc.identifier.doi10.1212/NXG.0000000000000273pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/3085
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWolters Kluwer Health, Incpt_PT
dc.subjectHereditary Spastic Paraplegiaspt_PT
dc.subjectPolymicrogyriapt_PT
dc.subjectHDE GENpt_PT
dc.subjectHDE NRADpt_PT
dc.subjectHDE NEU PEDpt_PT
dc.subjectHDE MTBpt_PT
dc.titleAP4S1 Splice-Site Mutation in a Case of Spastic Paraplegia Type 52 with Polymicrogyriapt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue5pt_PT
oaire.citation.startPagee273pt_PT
oaire.citation.volume4pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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