DSpace Repository

Clinical and Molecular Features of Late Onset Huntington Disease in a Peruvian Cohort

Show simple item record

dc.contributor.author Cornejo-Olivas, M.R.
dc.contributor.author Inca-Martinez, M.A.
dc.contributor.author Espinoza Huertas, Keren Antonieta
dc.contributor.author Veliz-Otani, D.
dc.contributor.author Velit-Salazar, M.R.
dc.contributor.author Marca, V.
dc.contributor.author Ortega, O.
dc.contributor.author Cornejo-Herrera, I.F.
dc.contributor.author Lindo-Samanamud, S.
dc.contributor.author Mora-Alferez, P.
dc.contributor.author Mazzetti, P.
dc.date.accessioned 2019-04-24T18:23:53Z
dc.date.available 2019-04-24T18:23:53Z
dc.date.issued 2015
dc.identifier.uri https://hdl.handle.net/20.500.12866/6474
dc.description.abstract Background: Late onset cases of Huntington disease (HD), with onset ≥60 years, account for up to 20% of HD cases worldwide. Clinical features include mild motor dysfunction with slow progression and cognitive impairment, frequent absence of family history and low number of CAG repeats. The clinical and molecular features of late onset HD is still understudied in Latin America. Objectives: To describe the clinical and molecular characteristics of late onset HD in a Peruvian cohort. Methods: An observational study was carried out by reviewing the HD registry at the Neurogenetics Research Center-INCN from 2000 to 2014. Genotyping of HTT gene was confirmed using standard PCR and PAGE in accordance to protocols previously established. Results: Thirty-one late onset HD cases from 27 pedigrees were identified (9.42% of total HD cases, n = 329), 51.61% were male. Mean age at onset was 64.1 ± 4.2 and CAG repeats mean was 42.5 ± 2.5. We did not find significant correlation between age at onset and CAG repeats. 33.3% of cases were traced back to Cañete valley. Twenty-two cases had a positive family history, 14 of them with paternal transmission. Choreic movements and cognitive impairment were the main existing manifestations reported in this cohort, with lower frequency of psychiatric disturbances. Conclusions: This report of late onset HD affected individuals shows a mild phenotype expression of the disease, associated with low range of CAG repeats and up to 30% of cases with absence of clear family history. Cañete valley remains the region with more cases. en_US
dc.language.iso eng
dc.publisher IOS Press
dc.relation.ispartofseries Journal of Huntington's Disease
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject allele en_US
dc.subject Article en_US
dc.subject CAG repeat en_US
dc.subject clinical feature en_US
dc.subject cognitive defect en_US
dc.subject disease transmission en_US
dc.subject family history en_US
dc.subject gene en_US
dc.subject genotype en_US
dc.subject htt gene en_US
dc.subject human en_US
dc.subject Huntington chorea en_US
dc.subject late onset huntington disease en_US
dc.subject Mini Mental State Examination en_US
dc.subject Montreal cognitive assessment en_US
dc.subject motor dysfunction en_US
dc.subject observational study en_US
dc.subject onset age en_US
dc.subject paternal transmission en_US
dc.subject paternalism en_US
dc.subject pedigree en_US
dc.subject Peruvian en_US
dc.subject polyacrylamide gel electrophoresis en_US
dc.subject polymerase chain reaction en_US
dc.subject priority journal en_US
dc.subject South America en_US
dc.subject systematic review en_US
dc.subject Unified Huntington Disease Rating Scale en_US
dc.subject aged en_US
dc.subject cohort analysis en_US
dc.subject female en_US
dc.subject genetics en_US
dc.subject Huntington Disease en_US
dc.subject male en_US
dc.subject middle aged en_US
dc.subject onset age en_US
dc.subject pathophysiology en_US
dc.subject Peru en_US
dc.subject trinucleotide repeat en_US
dc.subject very elderly en_US
dc.subject HTT protein, human en_US
dc.subject nerve protein en_US
dc.subject Age of Onset en_US
dc.subject Aged en_US
dc.subject Aged, 80 and over en_US
dc.subject Cohort Studies en_US
dc.subject Female en_US
dc.subject Humans en_US
dc.subject Huntington Disease en_US
dc.subject Male en_US
dc.subject Middle Aged en_US
dc.subject Nerve Tissue Proteins en_US
dc.subject Peru en_US
dc.subject Trinucleotide Repeat Expansion en_US
dc.title Clinical and Molecular Features of Late Onset Huntington Disease in a Peruvian Cohort en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.3233/JHD-140119
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#3.02.25
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#3.01.04
dc.relation.issn 1879-6400


Files in this item

Files Size Format View

There are no files associated with this item.

This item appears in the following Collection(s)

Show simple item record

info:eu-repo/semantics/restrictedAccess Except where otherwise noted, this item's license is described as info:eu-repo/semantics/restrictedAccess

Search DSpace


Browse

My Account

Statistics