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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 05834naa a2200697 4500 | |
| 001 | oai:gup.ub.gu.se/294968 | |
| 003 | SwePub | |
| 008 | 240528s2020 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://gup.ub.gu.se/publication/2949682 URI |
| 024 | 7 | a https://doi.org/10.1016/s1474-4422(20)30143-52 DOI |
| 040 | a (SwePub)gu | |
| 041 | a eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Scahill, R. I.4 aut |
| 245 | 1 0 | a Biological and clinical characteristics of gene carriers far from predicted onset in the Huntington?s disease Young Adult Study (HD-YAS): a cross-sectional analysis |
| 264 | 1 | b Elsevier BV,c 2020 |
| 520 | a Background Disease-modifying treatments are in development for Huntington's disease; crucial to their success is to identify a timepoint in a patient's life when there is a measurable biomarker of early neurodegeneration while clinical function is still intact. We aimed to identify this timepoint in a novel cohort of young adult premanifest Huntington's disease gene carriers (preHD) far from predicted clinical symptom onset. Methods We did the Huntington's disease Young Adult Study (HD-YAS) in the UK. We recruited young adults with preHD and controls matched for age, education, and sex to ensure each group had at least 60 participants with imaging data, accounting for scan fails. Controls either had a family history of Huntington's disease but a negative genetic test, or no known family history of Huntington's disease. All participants underwent detailed neuropsychiatric and cognitive assessments, including tests from the Cambridge Neuropsychological Test Automated Battery and a battery assessing emotion, motivation, impulsivity and social cognition (EMOTICOM). Imaging (done for all participants without contraindications) included volumetric MRI, diffusion imaging, and multiparametric mapping. Biofluid markers of neuronal health were examined using blood and CSF collection. We did a cross-sectional analysis using general least-squares linear models to assess group differences and associations with age and CAG length, relating to predicted years to clinical onset. Results were corrected for multiple comparisons using the false discovery rate (FDR), with FDR <0.05 deemed a significant result. Findings Data were obtained between Aug 2, 2017, and April 25, 2019. We recruited 64 young adults with preHD and 67 controls. Mean ages of participants were 29.0 years (SD 5.6) and 29.1 years (5.7) in the preHD and control groups, respectively. We noted no significant evidence of cognitive or psychiatric impairment in preHD participants 23.6 years (SD 5.8) from predicted onset (FDR 0.22-0.87 for cognitive measures, 0.31-0.91 for neuropsychiatric measures). The preHD cohort had slightly smaller putamen volumes (FDR=0.03), but this did not appear to be closely related to predicted years to onset (FDR=0.54). There were no group differences in other brain imaging measures (FDR >0.16). CSF neurofilament light protein (NfL), plasma NfL, and CSF YKL-40 were elevated in this far-from-onset preHD cohort compared with controls (FDR<0.0001, =0.01, and =0.03, respectively). CSF NfL elevations were more likely in individuals closer to expected clinical onset (FDR <0.0001). Interpretation We report normal brain function yet a rise in sensitive measures of neurodegeneration in a preHD cohort approximately 24 years from predicted clinical onset. CSF NfL appears to be a more sensitive measure than plasma NfL to monitor disease progression. This preHD cohort is one of the earliest yet studied, and our findings could be used to inform decisions about when to initiate a potential future intervention to delay or prevent further neurodegeneration while function is intact. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Neurovetenskaper0 (SwePub)301052 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Neurosciences0 (SwePub)301052 hsv//eng |
| 653 | a cerebrospinal-fluid | |
| 653 | a large-sample | |
| 653 | a protein | |
| 653 | a cantab | |
| 653 | a premanifest | |
| 653 | a dysfunction | |
| 653 | a progression | |
| 653 | a Neurosciences & Neurology | |
| 700 | 1 | a Zeun, P.4 aut |
| 700 | 1 | a Osborne-Crowley, K.4 aut |
| 700 | 1 | a Johnson, E. B.4 aut |
| 700 | 1 | a Gregory, S.4 aut |
| 700 | 1 | a Parker, C.4 aut |
| 700 | 1 | a Lowe, J.4 aut |
| 700 | 1 | a Nair, A.4 aut |
| 700 | 1 | a O'Callaghan, C.4 aut |
| 700 | 1 | a Langley, C.4 aut |
| 700 | 1 | a Papoutsi, M.4 aut |
| 700 | 1 | a McColgan, P.4 aut |
| 700 | 1 | a Estevez-Fraga, C.4 aut |
| 700 | 1 | a Fayer, K.4 aut |
| 700 | 1 | a Wellington, H.4 aut |
| 700 | 1 | a Rodrigues, F. B.4 aut |
| 700 | 1 | a Byrne, L. M.4 aut |
| 700 | 1 | a Heselgrave, A.4 aut |
| 700 | 1 | a Hyare, H.4 aut |
| 700 | 1 | a Sampaio, C.4 aut |
| 700 | 1 | a Zetterberg, Henrik,d 1973u Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry4 aut0 (Swepub:gu)xzethe |
| 700 | 1 | a Zhang, H.4 aut |
| 700 | 1 | a Wild, E. J.4 aut |
| 700 | 1 | a Rees, G.4 aut |
| 700 | 1 | a Robbins, T. W.4 aut |
| 700 | 1 | a Sahakian, B. J.4 aut |
| 700 | 1 | a Langbehn, D.4 aut |
| 700 | 1 | a Tabrizi, S. J.4 aut |
| 710 | 2 | a Göteborgs universitetb Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi4 org |
| 773 | 0 | t Lancet Neurologyd : Elsevier BVg 19:6, s. 502-512q 19:6<502-512x 1474-4422 |
| 856 | 4 | u http://www.thelancet.com/article/S1474442220301435/pdf |
| 856 | 4 8 | u https://gup.ub.gu.se/publication/294968 |
| 856 | 4 8 | u https://doi.org/10.1016/s1474-4422(20)30143-5 |
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