Serum neurofilament light chain as a severity marker for spinocerebellar ataxia

Abstract Since the serum neurofilament light (NfL) chain is known as a promising biomarker in neurodegenerative diseases, we aimed to evaluate serum NfL as a biomarker indicating neuronal damage in autosomal-dominant (AD) spinocerebellar ataxia (SCA). We reviewed patients diagnosed with AD SCA in th...

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Autores principales:	Hye-Rim Shin, Jangsup Moon, Woo-Jin Lee, Han Sang Lee, Eun Young Kim, Seoyi Shin, Soon-Tae Lee, Keun-Hwa Jung, Kyung-Il Park, Ki-Young Jung, Sang Kun Lee, Kon Chu
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/02b6e646b6a34ef78ff7d19e2ad5b1d3
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spelling	oai:doaj.org-article:02b6e646b6a34ef78ff7d19e2ad5b1d32021-12-02T16:10:24ZSerum neurofilament light chain as a severity marker for spinocerebellar ataxia10.1038/s41598-021-92855-z2045-2322https://doaj.org/article/02b6e646b6a34ef78ff7d19e2ad5b1d32021-06-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-92855-zhttps://doaj.org/toc/2045-2322Abstract Since the serum neurofilament light (NfL) chain is known as a promising biomarker in neurodegenerative diseases, we aimed to evaluate serum NfL as a biomarker indicating neuronal damage in autosomal-dominant (AD) spinocerebellar ataxia (SCA). We reviewed patients diagnosed with AD SCA in the outpatient clinic of Seoul National University Hospital’s (SNUH) Department of Neurology between May and August of 2019. We reviewed the demographic data, clinical characteristics, Scale for the Assessment and Rating of Ataxia (SARA) score, and brain magnetic resonance imaging (MRI) scans. The serum NfL was measured by electrochemiluminescence (ECL) immunoassay. Forty-nine patients with AD SCA were reviewed and their serum NfL level was determined. The median serum NfL level (109.5 pg/mL) was higher than control (41.1 pg/mL) (p-value < 0.001). Among the AD SCA patients, there was a positive correlation between the serum NfL level and the trinucleotide repeat number (r = 0.47, p-value = 0.001), disease duration (r = 0.35, p-value = 0.019), disease duration/age × trinucleotide repeat number (r = 0.330, p-value = 0.021), and SARA score (n = 33; r = 0.37, p-value = 0.033). This study shows that serum NfL is elevated in AD SCA patients and correlates with clinical severity.Hye-Rim ShinJangsup MoonWoo-Jin LeeHan Sang LeeEun Young KimSeoyi ShinSoon-Tae LeeKeun-Hwa JungKyung-Il ParkKi-Young JungSang Kun LeeKon ChuNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Hye-Rim Shin Jangsup Moon Woo-Jin Lee Han Sang Lee Eun Young Kim Seoyi Shin Soon-Tae Lee Keun-Hwa Jung Kyung-Il Park Ki-Young Jung Sang Kun Lee Kon Chu Serum neurofilament light chain as a severity marker for spinocerebellar ataxia
description	Abstract Since the serum neurofilament light (NfL) chain is known as a promising biomarker in neurodegenerative diseases, we aimed to evaluate serum NfL as a biomarker indicating neuronal damage in autosomal-dominant (AD) spinocerebellar ataxia (SCA). We reviewed patients diagnosed with AD SCA in the outpatient clinic of Seoul National University Hospital’s (SNUH) Department of Neurology between May and August of 2019. We reviewed the demographic data, clinical characteristics, Scale for the Assessment and Rating of Ataxia (SARA) score, and brain magnetic resonance imaging (MRI) scans. The serum NfL was measured by electrochemiluminescence (ECL) immunoassay. Forty-nine patients with AD SCA were reviewed and their serum NfL level was determined. The median serum NfL level (109.5 pg/mL) was higher than control (41.1 pg/mL) (p-value < 0.001). Among the AD SCA patients, there was a positive correlation between the serum NfL level and the trinucleotide repeat number (r = 0.47, p-value = 0.001), disease duration (r = 0.35, p-value = 0.019), disease duration/age × trinucleotide repeat number (r = 0.330, p-value = 0.021), and SARA score (n = 33; r = 0.37, p-value = 0.033). This study shows that serum NfL is elevated in AD SCA patients and correlates with clinical severity.
format	article
author	Hye-Rim Shin Jangsup Moon Woo-Jin Lee Han Sang Lee Eun Young Kim Seoyi Shin Soon-Tae Lee Keun-Hwa Jung Kyung-Il Park Ki-Young Jung Sang Kun Lee Kon Chu
author_facet	Hye-Rim Shin Jangsup Moon Woo-Jin Lee Han Sang Lee Eun Young Kim Seoyi Shin Soon-Tae Lee Keun-Hwa Jung Kyung-Il Park Ki-Young Jung Sang Kun Lee Kon Chu
author_sort	Hye-Rim Shin
title	Serum neurofilament light chain as a severity marker for spinocerebellar ataxia
title_short	Serum neurofilament light chain as a severity marker for spinocerebellar ataxia
title_full	Serum neurofilament light chain as a severity marker for spinocerebellar ataxia
title_fullStr	Serum neurofilament light chain as a severity marker for spinocerebellar ataxia
title_full_unstemmed	Serum neurofilament light chain as a severity marker for spinocerebellar ataxia
title_sort	serum neurofilament light chain as a severity marker for spinocerebellar ataxia
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/02b6e646b6a34ef78ff7d19e2ad5b1d3
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Serum neurofilament light chain as a severity marker for spinocerebellar ataxia

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