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Parkin Pleiotropy: Extremely Atypical Phenotypes in Patients With Compound Heterozygous Mutations

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dc.contributor.author Millar Vernetti, Patricio
dc.contributor.author Rossi, Malco Damián
dc.contributor.author Merello, Marcelo
dc.date.accessioned 2021-04-28T15:30:20Z
dc.date.available 2021-04-28T15:30:20Z
dc.date.issued 2020-08-13
dc.identifier.citation Millar Vernetti, P., Rossi, M., Merello, M., 2020. Parkin pleiotropy: Extremely atypical phenotypes in patients with compound heterozygous mutations. Tremor and Other Hyperkinetic Movements (N Y). 2020 Aug 13;10:26. doi: 10.5334/tohm.55 es_ES
dc.identifier.uri https://repositorio.fleni.org.ar/xmlui/handle/123456789/439
dc.identifier.uri https://tremorjournal.org/articles/10.5334/tohm.55/
dc.description.abstract Background: Parkin mutations are suspected in early-onset Parkinson's disease with early motor complications, and in pedigrees showing an autosomal recessive pattern. Some compound heterozygous mutations can present with various uncommon phenotypes. Case report: Two siblings with the same mutations, one with atypical postural and action tremor, and the other with an axonal motor autonomic neuropathy. A woman with a 45-year history of slowly progressive parkinsonism with no motor complications. Discussion: Due to the variability of phenotypes of Parkin mutations, testing should also be warranted in patients with atypical tremor syndromes or axonal polyneuropathy when more common causes have been ruled out. Highlights: We report three patients with extremely atypical parkin mutation phenotypes: an atypical tremor syndrome, an axonal motor autonomic neuropathy, and a remarkably slowly progressive parkinsonism. This shows that parkin mutations may present with a highly variable phenotype, and should be considered in patients with such manifestations. es_ES
dc.language.iso eng es_ES
dc.publisher Ubiquity Press es_ES
dc.rights info:eu-repo/semantics/openAccess
dc.rights.uri https://creativecommons.org/licenses/by/2.5/ar/
dc.subject Parkinson Disease es_ES
dc.subject Enfermedad de Parkinson es_ES
dc.title Parkin Pleiotropy: Extremely Atypical Phenotypes in Patients With Compound Heterozygous Mutations es_ES
dc.type info:eu-repo/semantics/article es_ES
dc.type info:eu-repo/semantics/publishedVersion
dc.description.fil Fil: Millar Vernetti, Patricio. Fleni. Departamento de Neurología. Servicio de Movimientos Anormales; Argentina.
dc.description.fil Fil: Merello, Marcelo. Fleni. Departamento de Neurología. Servicio de Movimientos Anormales; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Pontificia Universidad Católica; Argentina
dc.description.fil Fil: Rossi, Malco Damián. Fleni. Departamento de Neurología. Servicio de Movimientos Anormales; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina.
dc.relation.ispartofVOLUME 10
dc.relation.ispartofNUMBER 26
dc.relation.ispartofCOUNTRY Reino Unido
dc.relation.ispartofTITLE Tremor and other hyperkinetic movements (New York, N.Y.)
dc.relation.ispartofISSN 2160-8288
dc.type.snrd info:ar-repo/semantics/artículo es_ES


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