Cerebrospinal fluid biomarkers for assessing Huntington disease onset and severity

NRC publication: Yes

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Bibliographic Details
Published inBrain communications Vol. 4; no. 6; p. fcac309
Main Authors Caron, Nicholas S, Haqqani, Arsalan S, Sandhu, Akshdeep, Aly, Amirah E, Findlay Black, Hailey, Bone, Jeffrey N, McBride, Jodi L, Abulrob, Abedelnasser, Stanimirovic, Danica, Leavitt, Blair R, Hayden, Michael R
Format Journal Article
LanguageEnglish
Published England Oxford University Press 2022
Subjects
Online AccessGet full text
ISSN2632-1297
2632-1297
DOI10.1093/braincomms/fcac309

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Abstract NRC publication: Yes
The identification of molecular biomarkers in CSF from individuals affected by Huntington disease may help improve predictions of disease onset, better define disease progression and could facilitate the evaluation of potential therapies. The primary objective of our study was to investigate novel CSF protein candidates and replicate previously reported protein biomarker changes in CSF from Huntington disease mutation carriers and healthy controls. Our secondary objective was to compare the discriminatory potential of individual protein analytes and combinations of CSF protein markers for stratifying individuals based on the severity of Huntington disease. We conducted a hypothesis-driven analysis of 26 pre-specified protein analytes in CSF from 16 manifest Huntington disease subjects, eight premanifest Huntington disease mutation carriers and eight healthy control individuals using parallel-reaction monitoring mass spectrometry. In addition to reproducing reported changes in previously investigated CSF biomarkers (NEFL, PDYN, and PENK), we also identified novel exploratory CSF proteins (C1QB, CNR1, GNAL, IDO1, IGF2, and PPP1R1B) whose levels were altered in Huntington disease mutation carriers and/or across stages of disease. Moreover, we report strong associations of select CSF proteins with clinical measures of disease severity in manifest Huntington disease subjects (C1QB, CNR1, NEFL, PDYN, PPP1R1B, and TTR) and with years to predicted disease onset in premanifest Huntington disease mutation carriers (ALB, C4B, CTSD, IGHG1, and TTR). Using receiver operating characteristic curve analysis, we identified PENK as being the most discriminant CSF protein for stratifying Huntington disease mutation carriers from controls. We also identified exploratory multi-marker CSF protein panels that improved discrimination of premanifest Huntington disease mutation carriers from controls (PENK, ALB and NEFL), early/mid-stage Huntington disease from premanifest mutation carriers (PPP1R1B, TTR, CHI3L1, and CTSD), and late-stage from early/mid-stage Huntington disease (CNR1, PPP1R1B, BDNF, APOE, and IGHG1) compared with individual CSF proteins. In this study, we demonstrate that combinations of CSF proteins can outperform individual markers for stratifying individuals based on Huntington disease mutation status and disease severity. Moreover, we define exploratory multi-marker CSF protein panels that, if validated, may be used to improve the accuracy of disease-onset predictions, complement existing clinical and imaging biomarkers for monitoring the severity of Huntington disease, and potentially for assessing therapeutic response in clinical trials. Additional studies with CSF collected from larger cohorts of Huntington disease mutation carriers are needed to replicate these exploratory findings.
AbstractList The identification of molecular biomarkers in CSF from individuals affected by Huntington disease may help improve predictions of disease onset, better define disease progression and could facilitate the evaluation of potential therapies. The primary objective of our study was to investigate novel CSF protein candidates and replicate previously reported protein biomarker changes in CSF from Huntington disease mutation carriers and healthy controls. Our secondary objective was to compare the discriminatory potential of individual protein analytes and combinations of CSF protein markers for stratifying individuals based on the severity of Huntington disease. We conducted a hypothesis-driven analysis of 26 pre-specified protein analytes in CSF from 16 manifest Huntington disease subjects, eight premanifest Huntington disease mutation carriers and eight healthy control individuals using parallel-reaction monitoring mass spectrometry. In addition to reproducing reported changes in previously investigated CSF biomarkers (NEFL, PDYN, and PENK), we also identified novel exploratory CSF proteins (C1QB, CNR1, GNAL, IDO1, IGF2, and PPP1R1B) whose levels were altered in Huntington disease mutation carriers and/or across stages of disease. Moreover, we report strong associations of select CSF proteins with clinical measures of disease severity in manifest Huntington disease subjects (C1QB, CNR1, NEFL, PDYN, PPP1R1B, and TTR) and with years to predicted disease onset in premanifest Huntington disease mutation carriers (ALB, C4B, CTSD, IGHG1, and TTR). Using receiver operating characteristic curve analysis, we identified PENK as being the most discriminant CSF protein for stratifying Huntington disease mutation carriers from controls. We also identified exploratory multi-marker CSF protein panels that improved discrimination of premanifest Huntington disease mutation carriers from controls (PENK, ALB and NEFL), early/mid-stage Huntington disease from premanifest mutation carriers (PPP1R1B, TTR, CHI3L1, and CTSD), and late-stage from early/mid-stage Huntington disease (CNR1, PPP1R1B, BDNF, APOE, and IGHG1) compared with individual CSF proteins. In this study, we demonstrate that combinations of CSF proteins can outperform individual markers for stratifying individuals based on Huntington disease mutation status and disease severity. Moreover, we define exploratory multi-marker CSF protein panels that, if validated, may be used to improve the accuracy of disease-onset predictions, complement existing clinical and imaging biomarkers for monitoring the severity of Huntington disease, and potentially for assessing therapeutic response in clinical trials. Additional studies with CSF collected from larger cohorts of Huntington disease mutation carriers are needed to replicate these exploratory findings.
The identification of molecular biomarkers in CSF from individuals affected by Huntington disease may help improve predictions of disease onset, better define disease progression and could facilitate the evaluation of potential therapies. The primary objective of our study was to investigate novel CSF protein candidates and replicate previously reported protein biomarker changes in CSF from Huntington disease mutation carriers and healthy controls. Our secondary objective was to compare the discriminatory potential of individual protein analytes and combinations of CSF protein markers for stratifying individuals based on the severity of Huntington disease. We conducted a hypothesis-driven analysis of 26 pre-specified protein analytes in CSF from 16 manifest Huntington disease subjects, eight premanifest Huntington disease mutation carriers and eight healthy control individuals using parallel-reaction monitoring mass spectrometry. In addition to reproducing reported changes in previously investigated CSF biomarkers (NEFL, PDYN, and PENK), we also identified novel exploratory CSF proteins (C1QB, CNR1, GNAL, IDO1, IGF2, and PPP1R1B) whose levels were altered in Huntington disease mutation carriers and/or across stages of disease. Moreover, we report strong associations of select CSF proteins with clinical measures of disease severity in manifest Huntington disease subjects (C1QB, CNR1, NEFL, PDYN, PPP1R1B, and TTR) and with years to predicted disease onset in premanifest Huntington disease mutation carriers (ALB, C4B, CTSD, IGHG1, and TTR). Using receiver operating characteristic curve analysis, we identified PENK as being the most discriminant CSF protein for stratifying Huntington disease mutation carriers from controls. We also identified exploratory multi-marker CSF protein panels that improved discrimination of premanifest Huntington disease mutation carriers from controls (PENK, ALB and NEFL), early/mid-stage Huntington disease from premanifest mutation carriers (PPP1R1B, TTR, CHI3L1, and CTSD), and late-stage from early/mid-stage Huntington disease (CNR1, PPP1R1B, BDNF, APOE, and IGHG1) compared with individual CSF proteins. In this study, we demonstrate that combinations of CSF proteins can outperform individual markers for stratifying individuals based on Huntington disease mutation status and disease severity. Moreover, we define exploratory multi-marker CSF protein panels that, if validated, may be used to improve the accuracy of disease-onset predictions, complement existing clinical and imaging biomarkers for monitoring the severity of Huntington disease, and potentially for assessing therapeutic response in clinical trials. Additional studies with CSF collected from larger cohorts of Huntington disease mutation carriers are needed to replicate these exploratory findings. Caron et al. report novel multi-marker CSF protein combinations that accurately discriminate between individuals based on Huntington’s disease mutation status and disease severity. These exploratory CSF biomarker panels may improve the accuracy of disease-onset predictions and complement clinical and imaging biomarkers for monitoring disease severity and therapeutic response. Graphical abstract
The identification of molecular biomarkers in CSF from individuals affected by Huntington disease may help improve predictions of disease onset, better define disease progression and could facilitate the evaluation of potential therapies. The primary objective of our study was to investigate novel CSF protein candidates and replicate previously reported protein biomarker changes in CSF from Huntington disease mutation carriers and healthy controls. Our secondary objective was to compare the discriminatory potential of individual protein analytes and combinations of CSF protein markers for stratifying individuals based on the severity of Huntington disease. We conducted a hypothesis-driven analysis of 26 pre-specified protein analytes in CSF from 16 manifest Huntington disease subjects, eight premanifest Huntington disease mutation carriers and eight healthy control individuals using parallel-reaction monitoring mass spectrometry. In addition to reproducing reported changes in previously investigated CSF biomarkers (NEFL, PDYN, and PENK), we also identified novel exploratory CSF proteins (C1QB, CNR1, GNAL, IDO1, IGF2, and PPP1R1B) whose levels were altered in Huntington disease mutation carriers and/or across stages of disease. Moreover, we report strong associations of select CSF proteins with clinical measures of disease severity in manifest Huntington disease subjects (C1QB, CNR1, NEFL, PDYN, PPP1R1B, and TTR) and with years to predicted disease onset in premanifest Huntington disease mutation carriers (ALB, C4B, CTSD, IGHG1, and TTR). Using receiver operating characteristic curve analysis, we identified PENK as being the most discriminant CSF protein for stratifying Huntington disease mutation carriers from controls. We also identified exploratory multi-marker CSF protein panels that improved discrimination of premanifest Huntington disease mutation carriers from controls (PENK, ALB and NEFL), early/mid-stage Huntington disease from premanifest mutation carriers (PPP1R1B, TTR, CHI3L1, and CTSD), and late-stage from early/mid-stage Huntington disease (CNR1, PPP1R1B, BDNF, APOE, and IGHG1) compared with individual CSF proteins. In this study, we demonstrate that combinations of CSF proteins can outperform individual markers for stratifying individuals based on Huntington disease mutation status and disease severity. Moreover, we define exploratory multi-marker CSF protein panels that, if validated, may be used to improve the accuracy of disease-onset predictions, complement existing clinical and imaging biomarkers for monitoring the severity of Huntington disease, and potentially for assessing therapeutic response in clinical trials. Additional studies with CSF collected from larger cohorts of Huntington disease mutation carriers are needed to replicate these exploratory findings.The identification of molecular biomarkers in CSF from individuals affected by Huntington disease may help improve predictions of disease onset, better define disease progression and could facilitate the evaluation of potential therapies. The primary objective of our study was to investigate novel CSF protein candidates and replicate previously reported protein biomarker changes in CSF from Huntington disease mutation carriers and healthy controls. Our secondary objective was to compare the discriminatory potential of individual protein analytes and combinations of CSF protein markers for stratifying individuals based on the severity of Huntington disease. We conducted a hypothesis-driven analysis of 26 pre-specified protein analytes in CSF from 16 manifest Huntington disease subjects, eight premanifest Huntington disease mutation carriers and eight healthy control individuals using parallel-reaction monitoring mass spectrometry. In addition to reproducing reported changes in previously investigated CSF biomarkers (NEFL, PDYN, and PENK), we also identified novel exploratory CSF proteins (C1QB, CNR1, GNAL, IDO1, IGF2, and PPP1R1B) whose levels were altered in Huntington disease mutation carriers and/or across stages of disease. Moreover, we report strong associations of select CSF proteins with clinical measures of disease severity in manifest Huntington disease subjects (C1QB, CNR1, NEFL, PDYN, PPP1R1B, and TTR) and with years to predicted disease onset in premanifest Huntington disease mutation carriers (ALB, C4B, CTSD, IGHG1, and TTR). Using receiver operating characteristic curve analysis, we identified PENK as being the most discriminant CSF protein for stratifying Huntington disease mutation carriers from controls. We also identified exploratory multi-marker CSF protein panels that improved discrimination of premanifest Huntington disease mutation carriers from controls (PENK, ALB and NEFL), early/mid-stage Huntington disease from premanifest mutation carriers (PPP1R1B, TTR, CHI3L1, and CTSD), and late-stage from early/mid-stage Huntington disease (CNR1, PPP1R1B, BDNF, APOE, and IGHG1) compared with individual CSF proteins. In this study, we demonstrate that combinations of CSF proteins can outperform individual markers for stratifying individuals based on Huntington disease mutation status and disease severity. Moreover, we define exploratory multi-marker CSF protein panels that, if validated, may be used to improve the accuracy of disease-onset predictions, complement existing clinical and imaging biomarkers for monitoring the severity of Huntington disease, and potentially for assessing therapeutic response in clinical trials. Additional studies with CSF collected from larger cohorts of Huntington disease mutation carriers are needed to replicate these exploratory findings.
NRC publication: Yes
Author Aly, Amirah E
Caron, Nicholas S
Sandhu, Akshdeep
Abulrob, Abedelnasser
Hayden, Michael R
Findlay Black, Hailey
Leavitt, Blair R
Bone, Jeffrey N
Stanimirovic, Danica
Haqqani, Arsalan S
McBride, Jodi L
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  fullname: Haqqani, Arsalan S
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  fullname: Aly, Amirah E
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  fullname: Bone, Jeffrey N
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  fullname: Abulrob, Abedelnasser
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  fullname: Stanimirovic, Danica
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  fullname: Leavitt, Blair R
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  fullname: Hayden, Michael R
BackLink https://www.ncbi.nlm.nih.gov/pubmed/36523269$$D View this record in MEDLINE/PubMed
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Cites_doi 10.1081/RRS-200029981
10.1126/scitranslmed.aat7108
10.1212/WNL.0000000000004743
10.1111/ene.12750
10.1002/ana.410410521
10.1016/j.jchemneu.2004.02.005
10.1007/s00401-020-02183-1
10.1186/1750-1326-6-37
10.3233/JAD-150351
10.1073/pnas.1204366109
10.1371/journal.pone.0163479
10.1038/srep45477
10.1093/nar/gkz369
10.1007/s00415-010-5876-x
10.1016/0092-8674(93)90585-E
10.1111/j.1399-0004.2004.00241.x
10.1093/hmg/9.9.1259
10.1002/mds.28391
10.1111/jnc.12350
10.1523/JNEUROSCI.4248-11.2012
10.1016/S1474-4422(13)70088-7
10.1021/acs.analchem.1c03782
10.1056/NEJMoa1900907
10.3233/JHD-170273
10.1038/nature09667
10.1126/science.1059581
10.1016/0304-3940(91)90583-F
10.1093/hmg/ddp527
10.1016/j.cell.2015.07.003
10.1523/JNEUROSCI.0676-04.2004
10.1074/mcp.RA117.000023
10.1038/srep41316
10.1212/NXI.0000000000000287
10.1074/mcp.M800231-MCP200
10.1021/pr0700753
10.1016/S0306-4522(00)00008-7
10.1371/journal.pone.0233820
10.1038/s41598-021-83000-x
10.1016/S1474-4422(11)70263-0
10.1038/s41598-019-45237-5
10.3389/fnins.2021.689938
10.1523/JNEUROSCI.0111-12.2012
10.1016/j.nbd.2011.03.006
10.1073/pnas.0308679101
10.1126/scitranslmed.abc2888
10.1007/978-1-59745-188-8_17
10.1371/journal.pcbi.1005752
10.1212/WNL.0000000000005005
10.3389/fimmu.2019.00362
10.3233/JHD-160196
10.1039/C9AN01893J
10.1038/srep12166
10.1016/j.nbd.2016.10.006
10.1021/mp3004995
10.1172/JCI80743
10.1006/exnr.1999.7170
10.3233/JHD-170269
10.1016/j.ajhg.2019.04.007
10.1007/BF02257671
10.1016/S0006-8993(00)02237-X
10.2307/2531595
10.1016/j.parkreldis.2008.05.012
10.1002/mds.870110204
10.1007/BF00310376
10.1002/ana.410270217
10.1021/acs.analchem.9b05685
10.1002/mds.28300
10.1371/journal.pone.0193492
10.1371/journal.pone.0015809
10.1038/nrneurol.2014.24
10.1016/j.parkreldis.2021.04.017
10.1002/ana.24406
10.1016/S1474-4422(17)30124-2
10.1016/j.expneurol.2013.08.019
10.1038/ng0893-398
10.1016/j.cell.2019.06.036
10.1093/hmg/ddl013
10.1073/pnas.85.15.5733
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Keywords proenkephalin
neurofilament light
biomarkers
CSF
Huntington disease
Language English
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References Hedreen (2022121316304672100_fcac309-B6) 1991; 133
Heinsen (2022121316304672100_fcac309-B7) 1994; 88
Andrew (2022121316304672100_fcac309-B9) 1993; 4
Cifani (2022121316304672100_fcac309-B35) 2017; 16
Chen (2022121316304672100_fcac309-B71) 2011; 469
Nguyen (2022121316304672100_fcac309-B37) 2019; 9
Huntington Study Group (2022121316304672100_fcac309-B16) 1996; 11
Wild (2022121316304672100_fcac309-B23) 2015; 125
Penney (2022121316304672100_fcac309-B51) 1997; 41
Di Pardo (2022121316304672100_fcac309-B69) 2017; 7
Huang (2022121316304672100_fcac309-B66) 2011; 6
Tabrizi (2022121316304672100_fcac309-B18) 2012; 11
Wexler (2022121316304672100_fcac309-B15) 2004; 101
Yu (2022121316304672100_fcac309-B80) 2020; 92
Raudvere (2022121316304672100_fcac309-B59) 2019; 47
Carpanini (2022121316304672100_fcac309-B77) 2019; 10
Tham (2022121316304672100_fcac309-B75) 1993; 5
Reiner (2022121316304672100_fcac309-B3) 1988; 85
Glass (2022121316304672100_fcac309-B4) 2000; 97
Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium (2022121316304672100_fcac309-B12) 2015; 162
Drouin-Ouellet (2022121316304672100_fcac309-B68) 2015; 78
Fang (2022121316304672100_fcac309-B38) 2009; 8
Niemela (2022121316304672100_fcac309-B41) 2021; 36
Ou (2022121316304672100_fcac309-B63) 2021; 11
Vinther-Jensen (2022121316304672100_fcac309-B30) 2016; 3
Zuccato (2022121316304672100_fcac309-B64) 2001; 293
Mazarei (2022121316304672100_fcac309-B48) 2010; 19
Haqqani (2022121316304672100_fcac309-B53) 2008; 439
Johnson (2022121316304672100_fcac309-B29) 2018; 90
Southwell (2022121316304672100_fcac309-B22) 2015; 5
Cudkowicz (2022121316304672100_fcac309-B5) 1990; 27
Mievis (2022121316304672100_fcac309-B76) 2011; 42
Brzhozovskiy (2022121316304672100_fcac309-B36) 2022; 94
Wright (2022121316304672100_fcac309-B14) 2019; 104
Rodrigues (2022121316304672100_fcac309-B25) 2020; 12
Bracko (2022121316304672100_fcac309-B73) 2012; 32
Ferrer (2022121316304672100_fcac309-B62) 2000; 866
Tabrizi (2022121316304672100_fcac309-B19) 2013; 12
Deng (2022121316304672100_fcac309-B2) 2004; 27
Dalrymple (2022121316304672100_fcac309-B40) 2007; 6
Niemela (2022121316304672100_fcac309-B32) 2018; 13
Schobel (2022121316304672100_fcac309-B17) 2017; 89
Hodges (2022121316304672100_fcac309-B44) 2006; 15
Byrne (2022121316304672100_fcac309-B20) 2016; 5
Gaither (2022121316304672100_fcac309-B81) 2020; 145
Ross (2022121316304672100_fcac309-B8) 2014; 10
Ryskamp (2022121316304672100_fcac309-B46) 2017; 97
Luthi-Carter (2022121316304672100_fcac309-B47) 2000; 9
Singhrao (2022121316304672100_fcac309-B78) 1999; 159
Corvol (2022121316304672100_fcac309-B45) 2004; 24
DeLong (2022121316304672100_fcac309-B57) 1988; 44
Rohart (2022121316304672100_fcac309-B56) 2017; 13
Shi (2022121316304672100_fcac309-B79) 2012; 109
Byrne (2022121316304672100_fcac309-B27) 2017; 16
Byrne (2022121316304672100_fcac309-B24) 2018; 10
Yuan (2022121316304672100_fcac309-B34) 2021; 15
Mazarei (2022121316304672100_fcac309-B49) 2013; 127
Schmeisser (2022121316304672100_fcac309-B72) 2012; 32
Silajdzic (2022121316304672100_fcac309-B21) 2018; 7
Al Shweiki (2022121316304672100_fcac309-B42) 2021; 36
Tabrizi (2022121316304672100_fcac309-B33) 2019; 380
Genetic Modifiers of Huntington’s Disease Consortium. Electronic address ghmhe, Genetic Modifiers of Huntington’s Disease (GeM-HD) Consortium (2022121316304672100_fcac309-B13) 2019; 178
Rodrigues (2022121316304672100_fcac309-B39) 2016; 11
Jesse (2022121316304672100_fcac309-B65) 2011; 258
Kuhn (2022121316304672100_fcac309-B55)
Mazzara (2022121316304672100_fcac309-B58) 2017; 7
The Huntington’s Disease Collaborative Research Group (2022121316304672100_fcac309-B1) 1993; 72
(2022121316304672100_fcac309-B54) 2020
Lowe (2022121316304672100_fcac309-B61) 2020; 15
Garcia-Huerta (2022121316304672100_fcac309-B50) 2020; 140
Langbehn (2022121316304672100_fcac309-B10) 2004; 65
Constantinescu (2022121316304672100_fcac309-B28) 2009; 15
Fodale (2022121316304672100_fcac309-B26) 2017; 6
Liang (2022121316304672100_fcac309-B60) 2011; 6
Parkin (2022121316304672100_fcac309-B31) 2021; 87
Neve (2022121316304672100_fcac309-B70) 2004; 24
Brinkman (2022121316304672100_fcac309-B11) 1997; 60
Haqqani (2022121316304672100_fcac309-B52) 2013; 10
Vinther-Jensen (2022121316304672100_fcac309-B43) 2015; 22
Lin (2022121316304672100_fcac309-B67) 2013; 250
Aberg (2022121316304672100_fcac309-B74) 2015; 48
References_xml – volume: 24
  start-page: 165
  issue: 3
  year: 2004
  ident: 2022121316304672100_fcac309-B70
  article-title: Dopamine receptor signaling
  publication-title: J Recept Signal Transduct Res
  doi: 10.1081/RRS-200029981
– volume: 10
  issue: 458
  year: 2018
  ident: 2022121316304672100_fcac309-B24
  article-title: Evaluation of mutant huntingtin and neurofilament proteins as potential markers in Huntington’s disease
  publication-title: Sci Transl Med
  doi: 10.1126/scitranslmed.aat7108
– volume: 89
  start-page: 2495
  issue: 24
  year: 2017
  ident: 2022121316304672100_fcac309-B17
  article-title: Motor, cognitive, and functional declines contribute to a single progressive factor in early HD
  publication-title: Neurology
  doi: 10.1212/WNL.0000000000004743
– volume: 22
  start-page: 1378
  issue: 10
  year: 2015
  ident: 2022121316304672100_fcac309-B43
  article-title: Ubiquitin: A potential cerebrospinal fluid progression marker in Huntington’s disease
  publication-title: Eur J Neurol
  doi: 10.1111/ene.12750
– volume: 41
  start-page: 689
  issue: 5
  year: 1997
  ident: 2022121316304672100_fcac309-B51
  article-title: CAG Repeat number governs the development rate of pathology in Huntington’s disease
  publication-title: Ann Neurol
  doi: 10.1002/ana.410410521
– volume: 27
  start-page: 143
  issue: 3
  year: 2004
  ident: 2022121316304672100_fcac309-B2
  article-title: Differential loss of striatal projection systems in Huntington’s disease: A quantitative immunohistochemical study
  publication-title: J Chem Neuroanat
  doi: 10.1016/j.jchemneu.2004.02.005
– volume: 140
  start-page: 737
  issue: 5
  year: 2020
  ident: 2022121316304672100_fcac309-B50
  article-title: Insulin-like growth factor 2 (IGF2) protects against Huntington’s disease through the extracellular disposal of protein aggregates
  publication-title: Acta Neuropathol
  doi: 10.1007/s00401-020-02183-1
– volume: 6
  start-page: 37
  year: 2011
  ident: 2022121316304672100_fcac309-B60
  article-title: Reduction of mutant huntingtin accumulation and toxicity by lysosomal cathepsins D and B in neurons
  publication-title: Mol Neurodegener
  doi: 10.1186/1750-1326-6-37
– volume: 48
  start-page: 637
  issue: 3
  year: 2015
  ident: 2022121316304672100_fcac309-B74
  article-title: Increased cerebrospinal fluid level of insulin-like growth factor-II in male patients with Alzheimer’s disease
  publication-title: J Alzheimers Dis
  doi: 10.3233/JAD-150351
– volume: 109
  start-page: 15395
  issue: 38
  year: 2012
  ident: 2022121316304672100_fcac309-B79
  article-title: Antibody-free, targeted mass-spectrometric approach for quantification of proteins at low picogram per milliliter levels in human plasma/serum
  publication-title: Proc Natl Acad Sci U S A
  doi: 10.1073/pnas.1204366109
– volume: 11
  start-page: e0163479
  issue: 9
  year: 2016
  ident: 2022121316304672100_fcac309-B39
  article-title: Cerebrospinal fluid inflammatory biomarkers reflect clinical severity in Huntington’s disease
  publication-title: PLoS One
  doi: 10.1371/journal.pone.0163479
– volume: 7
  start-page: 45477
  year: 2017
  ident: 2022121316304672100_fcac309-B58
  article-title: CombiROC: An interactive web tool for selecting accurate marker combinations of omics data
  publication-title: Sci Rep
  doi: 10.1038/srep45477
– volume: 47
  start-page: W191
  issue: W1
  year: 2019
  ident: 2022121316304672100_fcac309-B59
  article-title: G:Profiler: A web server for functional enrichment analysis and conversions of gene lists (2019 update)
  publication-title: Nucleic Acids Res
  doi: 10.1093/nar/gkz369
– volume: 258
  start-page: 1034
  issue: 6
  year: 2011
  ident: 2022121316304672100_fcac309-B65
  article-title: Summary of cerebrospinal fluid routine parameters in neurodegenerative diseases
  publication-title: J Neurol
  doi: 10.1007/s00415-010-5876-x
– volume: 72
  start-page: 971
  issue: 6
  year: 1993
  ident: 2022121316304672100_fcac309-B1
  article-title: A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes
  publication-title: Cell
  doi: 10.1016/0092-8674(93)90585-E
– volume: 65
  start-page: 267
  issue: 4
  year: 2004
  ident: 2022121316304672100_fcac309-B10
  article-title: A new model for prediction of the age of onset and penetrance for Huntington’s disease based on CAG length
  publication-title: Clin Genet
  doi: 10.1111/j.1399-0004.2004.00241.x
– volume: 9
  start-page: 1259
  issue: 9
  year: 2000
  ident: 2022121316304672100_fcac309-B47
  article-title: Decreased expression of striatal signaling genes in a mouse model of Huntington’s disease
  publication-title: Hum Mol Genet
  doi: 10.1093/hmg/9.9.1259
– volume: 36
  start-page: 481
  issue: 2
  year: 2021
  ident: 2022121316304672100_fcac309-B41
  article-title: Proenkephalin decreases in cerebrospinal fluid with symptom progression of Huntington’s disease
  publication-title: Mov Disord
  doi: 10.1002/mds.28391
– volume: 127
  start-page: 852
  issue: 6
  year: 2013
  ident: 2022121316304672100_fcac309-B49
  article-title: Age-dependent alterations of the kynurenine pathway in the YAC128 mouse model of Huntington disease
  publication-title: J Neurochem
  doi: 10.1111/jnc.12350
– volume: 32
  start-page: 3376
  issue: 10
  year: 2012
  ident: 2022121316304672100_fcac309-B73
  article-title: Gene expression profiling of neural stem cells and their neuronal progeny reveals IGF2 as a regulator of adult hippocampal neurogenesis
  publication-title: J Neurosci
  doi: 10.1523/JNEUROSCI.4248-11.2012
– volume: 12
  start-page: 637
  issue: 7
  year: 2013
  ident: 2022121316304672100_fcac309-B19
  article-title: Predictors of phenotypic progression and disease onset in premanifest and early-stage Huntington’s disease in the TRACK-HD study: Analysis of 36-month observational data
  publication-title: Lancet Neurol
  doi: 10.1016/S1474-4422(13)70088-7
– volume: 94
  start-page: 2016
  issue: 4
  year: 2022
  ident: 2022121316304672100_fcac309-B36
  article-title: The parallel reaction monitoring-parallel accumulation-serial fragmentation (prm-PASEF) approach for multiplexed absolute quantitation of proteins in human plasma
  publication-title: Anal Chem
  doi: 10.1021/acs.analchem.1c03782
– volume: 380
  start-page: 2307
  issue: 24
  year: 2019
  ident: 2022121316304672100_fcac309-B33
  article-title: Targeting huntingtin expression in patients with Huntington’s disease
  publication-title: N Engl J Med
  doi: 10.1056/NEJMoa1900907
– volume: 7
  start-page: 109
  issue: 2
  year: 2018
  ident: 2022121316304672100_fcac309-B21
  article-title: A critical evaluation of wet biomarkers for Huntington’s disease: Current Status and ways forward
  publication-title: J Huntingtons Dis
  doi: 10.3233/JHD-170273
– volume: 469
  start-page: 491
  issue: 7331
  year: 2011
  ident: 2022121316304672100_fcac309-B71
  article-title: A critical role for IGF-II in memory consolidation and enhancement
  publication-title: Nature
  doi: 10.1038/nature09667
– volume: 293
  start-page: 493
  issue: 5529
  year: 2001
  ident: 2022121316304672100_fcac309-B64
  article-title: Loss of huntingtin-mediated BDNF gene transcription in Huntington’s disease
  publication-title: Science
  doi: 10.1126/science.1059581
– volume: 133
  start-page: 257
  issue: 2
  year: 1991
  ident: 2022121316304672100_fcac309-B6
  article-title: Neuronal loss in layers V and VI of cerebral cortex in Huntington’s disease
  publication-title: Neurosci Lett
  doi: 10.1016/0304-3940(91)90583-F
– volume: 19
  start-page: 609
  issue: 4
  year: 2010
  ident: 2022121316304672100_fcac309-B48
  article-title: Expression analysis of novel striatal-enriched genes in Huntington disease
  publication-title: Hum Mol Genet
  doi: 10.1093/hmg/ddp527
– volume: 162
  start-page: 516
  issue: 3
  year: 2015
  ident: 2022121316304672100_fcac309-B12
  article-title: Identification of genetic factors that modify clinical onset of Huntington’s disease
  publication-title: Cell
  doi: 10.1016/j.cell.2015.07.003
– volume: 24
  start-page: 7007
  issue: 31
  year: 2004
  ident: 2022121316304672100_fcac309-B45
  article-title: Persistent increase in olfactory type G-protein alpha subunit levels may underlie D1 receptor functional hypersensitivity in Parkinson disease
  publication-title: J Neurosci
  doi: 10.1523/JNEUROSCI.0676-04.2004
– volume: 16
  start-page: 2006
  issue: 11
  year: 2017
  ident: 2022121316304672100_fcac309-B35
  article-title: High sensitivity quantitative proteomics using automated multidimensional nano-flow chromatography and accumulated ion monitoring on quadrupole-orbitrap-linear ion trap mass spectrometer
  publication-title: Mol Cell Proteomics
  doi: 10.1074/mcp.RA117.000023
– volume: 7
  start-page: 41316
  year: 2017
  ident: 2022121316304672100_fcac309-B69
  article-title: Impairment of blood-brain barrier is an early event in R6/2 mouse model of Huntington disease
  publication-title: Sci Rep
  doi: 10.1038/srep41316
– volume: 3
  start-page: e287
  issue: 6
  year: 2016
  ident: 2022121316304672100_fcac309-B30
  article-title: Selected CSF biomarkers indicate no evidence of early neuroinflammation in Huntington disease
  publication-title: Neurol Neuroimmunol Neuroinflamm
  doi: 10.1212/NXI.0000000000000287
– volume: 8
  start-page: 451
  issue: 3
  year: 2009
  ident: 2022121316304672100_fcac309-B38
  article-title: Brain-specific proteins decline in the cerebrospinal fluid of humans with Huntington disease
  publication-title: Mol Cell Proteomics
  doi: 10.1074/mcp.M800231-MCP200
– volume: 6
  start-page: 2833
  issue: 7
  year: 2007
  ident: 2022121316304672100_fcac309-B40
  article-title: Proteomic profiling of plasma in Huntington’s disease reveals neuroinflammatory activation and biomarker candidates
  publication-title: J Proteome Res
  doi: 10.1021/pr0700753
– volume: 97
  start-page: 505
  issue: 3
  year: 2000
  ident: 2022121316304672100_fcac309-B4
  article-title: The pattern of neurodegeneration in Huntington’s disease: A comparative study of cannabinoid, dopamine, adenosine and GABA(A) receptor alterations in the human basal ganglia in Huntington’s disease
  publication-title: Neuroscience
  doi: 10.1016/S0306-4522(00)00008-7
– volume: 15
  start-page: e0233820
  issue: 8
  year: 2020
  ident: 2022121316304672100_fcac309-B61
  article-title: Cerebrospinal fluid endo-lysosomal proteins as potential biomarkers for Huntington’s disease
  publication-title: PLoS One
  doi: 10.1371/journal.pone.0233820
– volume: 11
  start-page: 3481
  issue: 1
  year: 2021
  ident: 2022121316304672100_fcac309-B63
  article-title: Brain-derived neurotrophic factor in cerebrospinal fluid and plasma is not a biomarker for Huntington’s disease
  publication-title: Sci Rep
  doi: 10.1038/s41598-021-83000-x
– volume: 11
  start-page: 42
  issue: 1
  year: 2012
  ident: 2022121316304672100_fcac309-B18
  article-title: Potential endpoints for clinical trials in premanifest and early Huntington’s disease in the TRACK-HD study: Analysis of 24 month observational data
  publication-title: Lancet Neurol
  doi: 10.1016/S1474-4422(11)70263-0
– volume: 9
  start-page: 8836
  issue: 1
  year: 2019
  ident: 2022121316304672100_fcac309-B37
  article-title: A sensitive and simple targeted proteomics approach to quantify transcription factor and membrane proteins of the unfolded protein response pathway in glioblastoma cells
  publication-title: Sci Rep
  doi: 10.1038/s41598-019-45237-5
– volume: 15
  start-page: 689938
  year: 2021
  ident: 2022121316304672100_fcac309-B34
  article-title: Neurofilament proteins as biomarkers to monitor neurological diseases and the efficacy of therapies
  publication-title: Front Neurosci
  doi: 10.3389/fnins.2021.689938
– volume: 32
  start-page: 5688
  issue: 16
  year: 2012
  ident: 2022121316304672100_fcac309-B72
  article-title: Ikappab kinase/nuclear factor kappaB-dependent insulin-like growth factor 2 (Igf2) expression regulates synapse formation and spine maturation via Igf2 receptor signaling
  publication-title: J Neurosci
  doi: 10.1523/JNEUROSCI.0111-12.2012
– volume: 42
  start-page: 524
  issue: 3
  year: 2011
  ident: 2022121316304672100_fcac309-B76
  article-title: Worsening of Huntington disease phenotype in CB1 receptor knockout mice
  publication-title: Neurobiol Dis
  doi: 10.1016/j.nbd.2011.03.006
– volume: 101
  start-page: 3498
  issue: 10
  year: 2004
  ident: 2022121316304672100_fcac309-B15
  article-title: Venezuelan kindreds reveal that genetic and environmental factors modulate Huntington’s disease age of onset
  publication-title: Proc Natl Acad Sci U S A
  doi: 10.1073/pnas.0308679101
– volume: 12
  issue: 574
  year: 2020
  ident: 2022121316304672100_fcac309-B25
  article-title: Mutant huntingtin and neurofilament light have distinct longitudinal dynamics in Huntington’s disease
  publication-title: Sci Transl Med
  doi: 10.1126/scitranslmed.abc2888
– volume: 439
  start-page: 241
  year: 2008
  ident: 2022121316304672100_fcac309-B53
  article-title: Quantitative protein profiling by mass spectrometry using label-free proteomics
  publication-title: Methods Mol Biol
  doi: 10.1007/978-1-59745-188-8_17
– volume: 13
  start-page: e1005752
  issue: 11
  year: 2017
  ident: 2022121316304672100_fcac309-B56
  article-title: Mixomics: An R package for ‘omics feature selection and multiple data integration
  publication-title: PLoS Comput Biol
  doi: 10.1371/journal.pcbi.1005752
– volume: 90
  start-page: e717
  issue: 8
  year: 2018
  ident: 2022121316304672100_fcac309-B29
  article-title: Neurofilament light protein in blood predicts regional atrophy in Huntington disease
  publication-title: Neurology
  doi: 10.1212/WNL.0000000000005005
– volume: 10
  start-page: 362
  year: 2019
  ident: 2022121316304672100_fcac309-B77
  article-title: Therapeutic inhibition of the complement system in diseases of the central nervous system
  publication-title: Front Immunol
  doi: 10.3389/fimmu.2019.00362
– volume: 5
  start-page: 1
  issue: 1
  year: 2016
  ident: 2022121316304672100_fcac309-B20
  article-title: Cerebrospinal fluid biomarkers for Huntington’s disease
  publication-title: J Huntingtons Dis
  doi: 10.3233/JHD-160196
– volume: 145
  start-page: 3634
  issue: 10
  year: 2020
  ident: 2022121316304672100_fcac309-B81
  article-title: Determination of the concentration range for 267 proteins from 21 lots of commercial human plasma using highly multiplexed multiple reaction monitoring mass spectrometry
  publication-title: Analyst
  doi: 10.1039/C9AN01893J
– volume: 5
  start-page: 12166
  year: 2015
  ident: 2022121316304672100_fcac309-B22
  article-title: Ultrasensitive measurement of huntingtin protein in cerebrospinal fluid demonstrates increase with Huntington disease stage and decrease following brain huntingtin suppression
  publication-title: Sci Rep
  doi: 10.1038/srep12166
– volume: 97
  start-page: 46
  issue: Pt A
  year: 2017
  ident: 2022121316304672100_fcac309-B46
  article-title: The sigma-1 receptor mediates the beneficial effects of pridopidine in a mouse model of Huntington disease
  publication-title: Neurobiol Dis
  doi: 10.1016/j.nbd.2016.10.006
– volume: 10
  start-page: 1542
  issue: 5
  year: 2013
  ident: 2022121316304672100_fcac309-B52
  article-title: Multiplexed evaluation of serum and CSF pharmacokinetics of brain-targeting single-domain antibodies using a NanoLC-SRM-ILIS method
  publication-title: Mol Pharm
  doi: 10.1021/mp3004995
– ident: 2022121316304672100_fcac309-B55
– volume: 60
  start-page: 1202
  issue: 5
  year: 1997
  ident: 2022121316304672100_fcac309-B11
  article-title: The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size
  publication-title: Am J Hum Genet
– volume: 125
  start-page: 1979
  issue: 5
  year: 2015
  ident: 2022121316304672100_fcac309-B23
  article-title: Quantification of mutant huntingtin protein in cerebrospinal fluid from Huntington’s disease patients
  publication-title: J Clin Invest
  doi: 10.1172/JCI80743
– volume: 159
  start-page: 362
  issue: 2
  year: 1999
  ident: 2022121316304672100_fcac309-B78
  article-title: Increased complement biosynthesis by microglia and complement activation on neurons in Huntington’s disease
  publication-title: Exp Neurol
  doi: 10.1006/exnr.1999.7170
– volume: 6
  start-page: 349
  issue: 4
  year: 2017
  ident: 2022121316304672100_fcac309-B26
  article-title: Validation of ultrasensitive mutant huntingtin detection in human cerebrospinal fluid by single molecule counting immunoassay
  publication-title: J Huntingtons Dis
  doi: 10.3233/JHD-170269
– volume: 104
  start-page: 1116
  issue: 6
  year: 2019
  ident: 2022121316304672100_fcac309-B14
  article-title: Length of uninterrupted CAG, independent of polyglutamine size, results in increased somatic instability, hastening onset of huntington disease
  publication-title: Am J Hum Genet
  doi: 10.1016/j.ajhg.2019.04.007
– volume: 5
  start-page: 165
  issue: 3
  year: 1993
  ident: 2022121316304672100_fcac309-B75
  article-title: Insulin-like growth factors and insulin-like growth factor binding proteins in cerebrospinal fluid and serum of patients with dementia of the Alzheimer type
  publication-title: J Neural Transm Park Dis Dement Sect
  doi: 10.1007/BF02257671
– volume: 866
  start-page: 257
  issue: 1-2
  year: 2000
  ident: 2022121316304672100_fcac309-B62
  article-title: Brain-derived neurotrophic factor in Huntington disease
  publication-title: Brain Res
  doi: 10.1016/S0006-8993(00)02237-X
– volume-title: R: A language and environment for statistical computing
  year: 2020
  ident: 2022121316304672100_fcac309-B54
– volume: 44
  start-page: 837
  issue: 3
  year: 1988
  ident: 2022121316304672100_fcac309-B57
  article-title: Comparing the areas under two or more correlated receiver operating characteristic curves: A nonparametric approach
  publication-title: Biometrics
  doi: 10.2307/2531595
– volume: 15
  start-page: 245
  issue: 3
  year: 2009
  ident: 2022121316304672100_fcac309-B28
  article-title: Levels of the light subunit of neurofilament triplet protein in cerebrospinal fluid in Huntington’s disease
  publication-title: Parkinsonism Relat Disord
  doi: 10.1016/j.parkreldis.2008.05.012
– volume: 11
  start-page: 136
  issue: 2
  year: 1996
  ident: 2022121316304672100_fcac309-B16
  article-title: Unified Huntington’s disease rating scale: Reliability and consistency
  publication-title: Mov Disord
  doi: 10.1002/mds.870110204
– volume: 88
  start-page: 320
  issue: 4
  year: 1994
  ident: 2022121316304672100_fcac309-B7
  article-title: Cortical and striatal neurone number in Huntington’s disease
  publication-title: Acta Neuropathol
  doi: 10.1007/BF00310376
– volume: 27
  start-page: 200
  issue: 2
  year: 1990
  ident: 2022121316304672100_fcac309-B5
  article-title: Degeneration of pyramidal projection neurons in Huntington’s disease cortex
  publication-title: Ann Neurol
  doi: 10.1002/ana.410270217
– volume: 92
  start-page: 6478
  issue: 9
  year: 2020
  ident: 2022121316304672100_fcac309-B80
  article-title: Benchmarking the orbitrap tribrid eclipse for next generation multiplexed proteomics
  publication-title: Anal Chem
  doi: 10.1021/acs.analchem.9b05685
– volume: 36
  start-page: 492
  issue: 2
  year: 2021
  ident: 2022121316304672100_fcac309-B42
  article-title: Cerebrospinal fluid levels of prodynorphin-derived peptides are decreased in Huntington’s disease
  publication-title: Mov Disord
  doi: 10.1002/mds.28300
– volume: 13
  start-page: e0193492
  issue: 2
  year: 2018
  ident: 2022121316304672100_fcac309-B32
  article-title: Cerebrospinal fluid sCD27 levels indicate active T cell-mediated inflammation in premanifest Huntington’s disease
  publication-title: PLoS One
  doi: 10.1371/journal.pone.0193492
– volume: 6
  start-page: e15809
  issue: 1
  year: 2011
  ident: 2022121316304672100_fcac309-B66
  article-title: Increased prothrombin, apolipoprotein A-IV, and haptoglobin in the cerebrospinal fluid of patients with Huntington’s disease
  publication-title: PLoS One
  doi: 10.1371/journal.pone.0015809
– volume: 10
  start-page: 204
  issue: 4
  year: 2014
  ident: 2022121316304672100_fcac309-B8
  article-title: Huntington disease: Natural history, biomarkers and prospects for therapeutics
  publication-title: Nat Rev Neurol
  doi: 10.1038/nrneurol.2014.24
– volume: 87
  start-page: 32
  year: 2021
  ident: 2022121316304672100_fcac309-B31
  article-title: Plasma neurofilament light in Huntington’s disease: A marker for disease onset, but not symptom progression
  publication-title: Parkinsonism Relat Disord
  doi: 10.1016/j.parkreldis.2021.04.017
– volume: 78
  start-page: 160
  issue: 2
  year: 2015
  ident: 2022121316304672100_fcac309-B68
  article-title: Cerebrovascular and blood-brain barrier impairments in Huntington’s disease: Potential implications for its pathophysiology
  publication-title: Ann Neurol
  doi: 10.1002/ana.24406
– volume: 16
  start-page: 601
  issue: 8
  year: 2017
  ident: 2022121316304672100_fcac309-B27
  article-title: Neurofilament light protein in blood as a potential biomarker of neurodegeneration in Huntington’s disease: A retrospective cohort analysis
  publication-title: Lancet Neurol
  doi: 10.1016/S1474-4422(17)30124-2
– volume: 250
  start-page: 20
  year: 2013
  ident: 2022121316304672100_fcac309-B67
  article-title: Neurovascular abnormalities in humans and mice with Huntington’s disease
  publication-title: Exp Neurol
  doi: 10.1016/j.expneurol.2013.08.019
– volume: 4
  start-page: 398
  issue: 4
  year: 1993
  ident: 2022121316304672100_fcac309-B9
  article-title: The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington’s disease
  publication-title: Nat Genet
  doi: 10.1038/ng0893-398
– volume: 178
  start-page: 887
  issue: 4
  year: 2019
  ident: 2022121316304672100_fcac309-B13
  article-title: CAG repeat not polyglutamine length determines timing of Huntington’s disease onset
  publication-title: Cell
  doi: 10.1016/j.cell.2019.06.036
– volume: 15
  start-page: 965
  issue: 6
  year: 2006
  ident: 2022121316304672100_fcac309-B44
  article-title: Regional and cellular gene expression changes in human Huntington’s disease brain
  publication-title: Hum Mol Genet
  doi: 10.1093/hmg/ddl013
– volume: 85
  start-page: 5733
  issue: 15
  year: 1988
  ident: 2022121316304672100_fcac309-B3
  article-title: Differential loss of striatal projection neurons in Huntington disease
  publication-title: Proc Natl Acad Sci U S A
  doi: 10.1073/pnas.85.15.5733
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The identification of molecular biomarkers in CSF from individuals affected by Huntington disease may help improve predictions of disease onset, better define...
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SubjectTerms biomarkers
CSF
Huntington disease
neurofilament light
Original
proenkephalin
Title Cerebrospinal fluid biomarkers for assessing Huntington disease onset and severity
URI https://nrc-publications.canada.ca/eng/view/object/?id=582e9eaf-2817-4280-a09d-32fb4f2d49b0
https://www.ncbi.nlm.nih.gov/pubmed/36523269
https://www.proquest.com/docview/2755577302
https://pubmed.ncbi.nlm.nih.gov/PMC9746690
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