Emerging differences between Huntington's disease-like 2 and Huntington's disease : a comparison using MRI brain volumetry

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dc.contributor.authorAnderson, David G.en_ZA
dc.contributor.authorHaagensen, Marken_ZA
dc.contributor.authorFerreira-Correia, Alineen_ZA
dc.contributor.authorPierson, Ronalden_ZA
dc.contributor.authorCarr, Jonathanen_ZA
dc.contributor.authorKrause, Amandaen_ZA
dc.contributor.authorMargolis, Russell L.en_ZA
dc.date.accessioned2021-10-06T08:10:24Z
dc.date.available2021-10-06T08:10:24Z
dc.date.issued2019
dc.descriptionCITATION: Anderson, D. G., et al. 2019. Emerging differences between Huntington's disease-like 2 and Huntington's disease : a comparison using MRI brain volumetry. NeuroImage: Clinical, 21:101666, doi:1016/j.nicl.2019.101666.
dc.descriptionThe original publication is available at http://www.sciencedirect.com
dc.description.abstractENGLISH ABSTRACT: Huntington's Disease-Like 2 (HDL2), caused by a CTG/CAG expansion in JPH3 on chromosome 16q24, is the most common Huntington's Disease (HD) phenocopy in populations with African ancestry. Qualitatively, brain MRIs of HDL2 patients have been indistinguishable from HD. To determine brain regions most affected in HDL2 a cross-sectional study using MRI brain volumetry was undertaken to compare the brains of nine HDL2, 11 HD and nine age matched control participants. Participants were ascertained from the region in South Africa with the world's highest HDL2 incidence. The HDL2 and HD patient groups showed no significant differences with respect to mean age at MRI, disease duration, abnormal triplet repeat length, or age at disease onset. Overall, intracerebral volumes were smaller in both affected groups compared to the control group. Comparing the HDL2 and HD groups across multiple covariates, cortical and subcortical volumes were similar with the exception that the HDL2 thalamic volumes were smaller. Consistent with other similarities between the two diseases, these results indicate a pattern of neurodegeneration in HDL2 that is remarkably similar to HD. However smaller thalamic volumes in HDL2 raises intriguing questions into the pathogenesis of both disorders, and how these volumetric differences relate to their respective phenotypes.en_ZA
dc.description.urihttps://www.sciencedirect.com/science/article/pii/S2213158219300166?via%3Dihub
dc.description.versionPublisher's version
dc.format.extent8 pagesen_ZA
dc.identifier.citationAnderson, D. G., et al. 2019. Emerging differences between Huntington's disease-like 2 and Huntington's disease : a comparison using MRI brain volumetry. NeuroImage: Clinical, 21:101666, doi:1016/j.nicl.2019.101666
dc.identifier.issn2213-1582 (online)
dc.identifier.otherdoi:1016/j.nicl.2019.101666
dc.identifier.urihttp://hdl.handle.net/10019.1/123136
dc.language.isoen_ZAen_ZA
dc.publisherElsevieren_ZA
dc.rights.holderAuthors retain copyrighten_ZA
dc.subjectHuntington's Diseaseen_ZA
dc.subjectHD-phenocopyen_ZA
dc.subjectMagnetic resonance imagingen_ZA
dc.subjectMRI brain volumetryen_ZA
dc.titleEmerging differences between Huntington's disease-like 2 and Huntington's disease : a comparison using MRI brain volumetryen_ZA
dc.typeArticleen_ZA
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