Plasma neurofilament light-chain and phosphorylated tau as biomarkers of disease severity in Huntington's disease: Korean cohort data

To investigate neurofilament light chain (NfL), phosphorylated tau (p-Tau) and total tau (t-Tau) as plasma markers for clinical severity in Korean Huntington's disease (HD) cohort. Genetically-confirmed 67 HD patients participated from 13 referral hospitals in South Korea. The subjects were eva...

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Veröffentlicht in:Journal of the neurological sciences 2023-09, Vol.452, p.120744-120744, Article 120744
Hauptverfasser: Hwang, Yun Su, Oh, Eungseok, Kim, Manho, Lee, Chan Young, Kim, Hyun Sook, Chung, Sun Ju, Sung, Young Hee, Yoon, Won Tae, Cho, Jin Hwan, Lee, Jae-Hyeok, Kim, Han-Joon, Chang, Hee Jin, Jeon, Beomseok, Woo, Kyung Ah, Ko, Seong Beom, Kwon, Kyum-Yil, Moon, Jangsup, Shin, Chaewon, Kim, Young Eun, Lee, Jee-Young
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container_title Journal of the neurological sciences
container_volume 452
creator Hwang, Yun Su
Oh, Eungseok
Kim, Manho
Lee, Chan Young
Kim, Hyun Sook
Chung, Sun Ju
Sung, Young Hee
Yoon, Won Tae
Cho, Jin Hwan
Lee, Jae-Hyeok
Kim, Han-Joon
Chang, Hee Jin
Jeon, Beomseok
Woo, Kyung Ah
Ko, Seong Beom
Kwon, Kyum-Yil
Moon, Jangsup
Shin, Chaewon
Kim, Young Eun
Lee, Jee-Young
description To investigate neurofilament light chain (NfL), phosphorylated tau (p-Tau) and total tau (t-Tau) as plasma markers for clinical severity in Korean Huntington's disease (HD) cohort. Genetically-confirmed 67 HD patients participated from 13 referral hospitals in South Korea. The subjects were evaluated with the Unified Huntington's Disease Rating Scale (UHDRS), total motor score (TMS) and total functional capacity (TFC), Mini-Mental Status Examination (K-MMSE), Montreal Cognitive Assessment (MoCA-K), and Beck's depression inventory (K-BDI). We measured plasma NfL, p-Tau and t-Tau concentrations using single-molecule array (SIMOA) assays. Stages of HD were classified based on UHDRS-TFC score and plasma markers were analyzed for correlation with clinical severity scales. Plasma NfL was elevated in both 6 premanifest and 61 full manifest HD patients compared to the reference value, which increased further from premanifest to manifest HD groups. The NfL level was not significantly correlated with UHDRS TMS or TFC scores in manifest HD patients. Plasma p-Tau was also elevated in HD patients (p = 0.038). The level was the highest in stage III-V HD (n = 30) group (post-hoc p 
doi_str_mv 10.1016/j.jns.2023.120744
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Genetically-confirmed 67 HD patients participated from 13 referral hospitals in South Korea. The subjects were evaluated with the Unified Huntington's Disease Rating Scale (UHDRS), total motor score (TMS) and total functional capacity (TFC), Mini-Mental Status Examination (K-MMSE), Montreal Cognitive Assessment (MoCA-K), and Beck's depression inventory (K-BDI). We measured plasma NfL, p-Tau and t-Tau concentrations using single-molecule array (SIMOA) assays. Stages of HD were classified based on UHDRS-TFC score and plasma markers were analyzed for correlation with clinical severity scales. Plasma NfL was elevated in both 6 premanifest and 61 full manifest HD patients compared to the reference value, which increased further from premanifest to manifest HD groups. The NfL level was not significantly correlated with UHDRS TMS or TFC scores in manifest HD patients. Plasma p-Tau was also elevated in HD patients (p = 0.038). The level was the highest in stage III-V HD (n = 30) group (post-hoc p &lt; 0.05). The p-Tau was correlated with UHDRS TFC scores (adjusted p = 0.002). Plasma t-Tau neither differed among the groups nor associated with any clinical variables. 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Published by Elsevier B.V.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c353t-cfcd8ef55caf4a00944fb4e621f41f2e8731d469d19ebef90a47a9b3464e6a9f3</citedby><cites>FETCH-LOGICAL-c353t-cfcd8ef55caf4a00944fb4e621f41f2e8731d469d19ebef90a47a9b3464e6a9f3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.jns.2023.120744$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>315,781,785,3551,27929,27930,46000</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/37541133$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hwang, Yun Su</creatorcontrib><creatorcontrib>Oh, Eungseok</creatorcontrib><creatorcontrib>Kim, Manho</creatorcontrib><creatorcontrib>Lee, Chan Young</creatorcontrib><creatorcontrib>Kim, Hyun Sook</creatorcontrib><creatorcontrib>Chung, Sun Ju</creatorcontrib><creatorcontrib>Sung, Young Hee</creatorcontrib><creatorcontrib>Yoon, Won Tae</creatorcontrib><creatorcontrib>Cho, Jin Hwan</creatorcontrib><creatorcontrib>Lee, Jae-Hyeok</creatorcontrib><creatorcontrib>Kim, Han-Joon</creatorcontrib><creatorcontrib>Chang, Hee Jin</creatorcontrib><creatorcontrib>Jeon, Beomseok</creatorcontrib><creatorcontrib>Woo, Kyung Ah</creatorcontrib><creatorcontrib>Ko, Seong Beom</creatorcontrib><creatorcontrib>Kwon, Kyum-Yil</creatorcontrib><creatorcontrib>Moon, Jangsup</creatorcontrib><creatorcontrib>Shin, Chaewon</creatorcontrib><creatorcontrib>Kim, Young Eun</creatorcontrib><creatorcontrib>Lee, Jee-Young</creatorcontrib><title>Plasma neurofilament light-chain and phosphorylated tau as biomarkers of disease severity in Huntington's disease: Korean cohort data</title><title>Journal of the neurological sciences</title><addtitle>J Neurol Sci</addtitle><description>To investigate neurofilament light chain (NfL), phosphorylated tau (p-Tau) and total tau (t-Tau) as plasma markers for clinical severity in Korean Huntington's disease (HD) cohort. 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Genetically-confirmed 67 HD patients participated from 13 referral hospitals in South Korea. The subjects were evaluated with the Unified Huntington's Disease Rating Scale (UHDRS), total motor score (TMS) and total functional capacity (TFC), Mini-Mental Status Examination (K-MMSE), Montreal Cognitive Assessment (MoCA-K), and Beck's depression inventory (K-BDI). We measured plasma NfL, p-Tau and t-Tau concentrations using single-molecule array (SIMOA) assays. Stages of HD were classified based on UHDRS-TFC score and plasma markers were analyzed for correlation with clinical severity scales. Plasma NfL was elevated in both 6 premanifest and 61 full manifest HD patients compared to the reference value, which increased further from premanifest to manifest HD groups. The NfL level was not significantly correlated with UHDRS TMS or TFC scores in manifest HD patients. Plasma p-Tau was also elevated in HD patients (p = 0.038). The level was the highest in stage III-V HD (n = 30) group (post-hoc p &lt; 0.05). The p-Tau was correlated with UHDRS TFC scores (adjusted p = 0.002). Plasma t-Tau neither differed among the groups nor associated with any clinical variables. This study supports plasma NfL being a biomarker for initial HD manifestation in Korean cohort, and a novel suggestion of plasma p-Tau as a potential biomarker reflecting the clinical severity in full-manifest HD. •Plasma NfL and p-tau levels are elevated in patients with Huntington’s disease.•Plasma NfL level was not significantly correlated with UHDRS TMS or TFC scores.•Plasma p-Tau level was correlated with the UHDRS TFC scores among HD patients.•This study suggests that plasma p-Tau might reflect the disease severity in HD.</abstract><cop>Netherlands</cop><pub>Elsevier B.V</pub><pmid>37541133</pmid><doi>10.1016/j.jns.2023.120744</doi><tpages>1</tpages></addata></record>
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source ScienceDirect Journals (5 years ago - present)
subjects Biomarker
Huntingtin's disease
Neurofilament light chain
Phosphorylated tau
Plasma
title Plasma neurofilament light-chain and phosphorylated tau as biomarkers of disease severity in Huntington's disease: Korean cohort data
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