dc.creator | Rodríguez Quiroga, Sergio Alejandro | |
dc.creator | González Morón, Dolores | |
dc.creator | Espay, Alberto J | |
dc.creator | Kauffman, Marcelo Andres | |
dc.date.accessioned | 2019-11-11T21:16:39Z | |
dc.date.accessioned | 2022-10-15T14:10:06Z | |
dc.date.available | 2019-11-11T21:16:39Z | |
dc.date.available | 2022-10-15T14:10:06Z | |
dc.date.created | 2019-11-11T21:16:39Z | |
dc.date.issued | 2018-02 | |
dc.identifier | Rodríguez Quiroga, Sergio Alejandro; González Morón, Dolores; Espay, Alberto J; Kauffman, Marcelo Andres; Holmes Tremor‐Like Phenotype in DYT1 Dystonia; Wiley; Movement Disorders Clinical Practice; 5; 2; 2-2018; 206-208 | |
dc.identifier | 2330-1619 | |
dc.identifier | http://hdl.handle.net/11336/88558 | |
dc.identifier | CONICET Digital | |
dc.identifier | CONICET | |
dc.identifier.uri | https://repositorioslatinoamericanos.uchile.cl/handle/2250/4395203 | |
dc.description.abstract | Holmes tremor is characterized by a combination of a flexion‐extension resting postural and action tremor, most often due to mesencephalic lesions affecting the nigrostriatal and cerebello‐thalamo‐cortical pathways. On the other hand, dystonic tremor represents a jerky postural and action tremor, which if severe enough may include a resting component and may arise from cerebellar and nigrostriatal dysfunction. Here, we present a patient with a four‐decade history of progressive tremor, initially interpreted as Holmes tremor with a dystonic (pseudospastic) gait, in whom whole exome sequencing (WES) demonstrated a pathogenic TOR1A deletion. This case highlights two important clinical points, (1) the need for proper semiologic interpretation: direct DYT1 testing could have been entertained if tremor was properly categorized as dystonic rather than cerebellar at the outset; and (2) the phenotypic variability of DYT1 dystonia, with tremor as a presenting and disabling feature separate from the body part affected by dystonia (“tremor associated with dystonia”). | |
dc.language | eng | |
dc.publisher | Wiley | |
dc.relation | info:eu-repo/semantics/altIdentifier/doi/https://doi.org/10.1002/mdc3.12585 | |
dc.relation | info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/full/10.1002/mdc3.12585 | |
dc.rights | https://creativecommons.org/licenses/by-nc-sa/2.5/ar/ | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.subject | DYSTONIA | |
dc.subject | GENOMICS | |
dc.title | Holmes Tremor‐Like Phenotype in DYT1 Dystonia | |
dc.type | info:eu-repo/semantics/article | |
dc.type | info:ar-repo/semantics/artículo | |
dc.type | info:eu-repo/semantics/publishedVersion | |