Evidence map›Paper›PMID 30858393›Full record

ArticleScientific reports2019

Alterations in the tyrosine and phenylalanine pathways revealed by biochemical profiling in cerebrospinal fluid of Huntington's disease subjects.

Stephanie Herman, Valter Niemelä, Payam Emami Khoonsari, Jimmy Sundblom, Joachim Burman, Anne-Marie Landtblom, Ola Spjuth, Dag Nyholm, Kim Kultima

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.

0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed
3.0field-weighted citation impact, top 8% 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

24 citing papers in PubMed, 53 citations in OpenAlex.

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  12. Vitamin B3 Biotech · 2023
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  13. Application of Metabolic Reprogramming to Cancer Imaging and Diagnosis.International journal of molecular sciences · 2022
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  19. Review
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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

9 authors at 1 institution in 1 country.

Stephanie HermanDepartment of Medical Sciences, Clinical Chemistry, Uppsala University, Uppsala, Sweden.
Valter NiemeläDepartment of Neuroscience, Neurology, Uppsala University, Uppsala, Sweden.
Payam Emami KhoonsariDepartment of Medical Sciences, Clinical Chemistry, Uppsala University, Uppsala, Sweden.
Jimmy SundblomDepartment of Neuroscience, Neurosurgery, Uppsala University, Uppsala, Sweden.
Joachim BurmanDepartment of Neuroscience, Neurology, Uppsala University, Uppsala, Sweden.ORCID 0000-0002-7045-1806
Anne-Marie LandtblomDepartment of Neuroscience, Neurology, Uppsala University, Uppsala, Sweden.
Ola SpjuthDepartment of Pharmaceutical Biosciences, Uppsala University, Uppsala, Sweden.
Dag NyholmDepartment of Neuroscience, Neurology, Uppsala University, Uppsala, Sweden.
Kim KultimaDepartment of Medical Sciences, Clinical Chemistry, Uppsala University, Uppsala, Sweden. Kim.Kultima@medsci.uu.se.
Uppsala University · SE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Huntington's disease (HD) is a severe neurological disease leading to psychiatric symptoms, motor impairment and cognitive decline. The disease is caused by a CAG expansion in the huntingtin (HTT) gene, but how this translates into the clinical phenotype of HD remains elusive. Using liquid chromatography mass spectrometry, we analyzed the metabolome of cerebrospinal fluid (CSF) from premanifest and manifest HD subjects as well as control subjects. Inter-group differences revealed that the tyrosine metabolism, including tyrosine, thyroxine, L-DOPA and dopamine, was significantly altered in manifest compared with premanifest HD. These metabolites demonstrated moderate to strong associations to measures of disease severity and symptoms. Thyroxine and dopamine also correlated with the five year risk of onset in premanifest HD subjects. The phenylalanine and the purine metabolisms were also significantly altered, but associated less to disease severity. Decreased levels of lumichrome were commonly found in mutated HTT carriers and the levels correlated with the five year risk of disease onset in premanifest carriers. These biochemical findings demonstrates that the CSF metabolome can be used to characterize molecular pathogenesis occurring in HD, which may be essential for future development of novel HD therapies.

Indexed as

AdultAgedBiomarkersDopamineFemaleHumansHuntington DiseaseLevodopaMaleMiddle AgedPhenylalanineThyroxineTyrosineBiomarkersDopamineLevodopaPhenylalanineThyroxineTyrosine

Identifiers

PMID30858393
PMCPMC6411723
OpenAlexW2921441681

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.