Evidence map›Paper›PMID 35938256›Full record

ArticleJournal of Huntington's disease2022

Quantifying Huntingtin Protein in Human Cerebrospinal Fluid Using a Novel Polyglutamine Length-Independent Assay.

Valentina Fodale, Roberta Pintauro, Manuel Daldin, Maria Carolina Spiezia, Douglas Macdonald, Alberto Bresciani

Open access · hybridAbstract read
In one paragraph

Article in Journal of Huntington's disease, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
0.9field-weighted citation impact, top 30% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 1 synthesis or guideline pooled it, 9 citations in OpenAlex.

  1. Systematic Review with Meta-Analysis of Biofluid Markers for Huntington's Disease.Movement disorders : official journal of the Movement Disorder Society · 2025
    Pooled it
  2. Fluid and Imaging Biomarkers in Huntington's Disease.Current neurology and neuroscience reports · 2026
    Review
  3. Article
  4. Review
  5. Article
  6. Frontiers in cell and developmental biology · 2023
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 2 institutions in 2 countries.

Valentina FodaleDepartment of Translational and Discovery Research, IRBM S.p.A., Pomezia, Roma, Italy.
Roberta PintauroDepartment of Translational and Discovery Research, IRBM S.p.A., Pomezia, Roma, Italy.
Manuel DaldinDepartment of Translational and Discovery Research, IRBM S.p.A., Pomezia, Roma, Italy.
Maria Carolina SpieziaDepartment of Translational and Discovery Research, IRBM S.p.A., Pomezia, Roma, Italy.
Douglas MacdonaldCHDI Management/CHDI Foundation, Los Angeles, CA, USA.
Alberto BrescianiDepartment of Translational and Discovery Research, IRBM S.p.A., Pomezia, Roma, Italy.
IRBM Science Park · ITCHDI Foundation · US

Funding

Medical Research Council MR/M008592/1
6 · The paper itself

Abstract

backgroundThe use of biomarkers has become a major component of clinical trial design. In Huntington's disease (HD), quantifying the amount of huntingtin protein (HTT) in patient cerebrospinal fluid (CSF) has served as a pharmacodynamic readout for HTT-lowering therapeutic approaches and is a potential disease progression biomarker. To date, an ultrasensitive immunoassay to quantify mutant HTT protein (mHTT) has been used, but additional assays are needed to measure other forms of HTT protein.

objectiveWe aimed to develop an ultrasensitive immunoassay to quantify HTT protein in a polyglutamine length-independent manner (mHTT and non-expanded wild type HTT combined) in control and HD participant CSF samples.

methodsAn ultrasensitive, bead-based, single molecule counting (SMC) immunoassay platform was used for the detection of HTT protein in human CSF samples.

resultsA novel ultrasensitive SMC immunoassay was developed to quantify HTT protein in a polyglutamine length-independent manner and shown to measure HTT in both control and HD participant CSF samples. We validate the selectivity and specificity of the readout using biochemical and molecular biology tools, and we undertook a preliminary analytical qualification of this assay to enable its clinical use. We also used this novel assay, along with the previously described mHTT assay, to analyze CSF from control and HD participants. The results of this preliminary set suggests that correlation is present between mHTT and the polyglutamine length-independent HTT levels in human CSF.

conclusionWe have developed a novel ultrasensitive immunoassay that is able to quantify HTT protein in a polyglutamine length-independent manner in control and HD participant CSF.

Indexed as

Huntington DiseaseBiomarkersHumansHuntingtin ProteinMutant ProteinsPeptidesBiomarkersHuntingtin ProteinMutant ProteinsPeptidespolyglutamineBiomarkerhuntingtinHuntington’s diseaseimmunoassaypharmacodynamic

Identifiers

PMID35938256
PMCPMC9535588
OpenAlexW4293857296

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.