Evidence map›Paper›PMID 31403080›Full record

ArticleNeurology. Genetics2019

Altered CSF levels of monoamines in hereditary spastic paraparesis 10: A case series.

Mattias Andréasson, Kristina Lagerstedt-Robinson, Kristin Samuelsson, Göran Solders, Kaj Blennow, Martin Paucar, Per Svenningsson

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.2field-weighted citation impact, top 52% 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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. New variants and genotype-phenotype correlation inJournal of medical genetics · 2025
    Article
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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

7 authors at 1 institution in 1 country.

Mattias AndréassonDepartment of Neurology (M.A., K.S., G.S., M.P., P.S.), Karolinska University Hospital; Center for Neurology (M.A., P.S.), Academic Specialist Center; Department of Molecular Medicine and Surgery (K.L.-R.), Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Hospital; Department of Clinical Neurophysiology (G.S.), Karolinska University Hospital, Stockholm; Department of Clinical Neuroscience (K.B.), University of Gothenburg; and Department of Clinical Neuroscience (M.A., K.S., G.S., M.P., P.S.), Karolinska Institutet, Stockholm, Sweden.
Kristina Lagerstedt-RobinsonDepartment of Neurology (M.A., K.S., G.S., M.P., P.S.), Karolinska University Hospital; Center for Neurology (M.A., P.S.), Academic Specialist Center; Department of Molecular Medicine and Surgery (K.L.-R.), Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Hospital; Department of Clinical Neurophysiology (G.S.), Karolinska University Hospital, Stockholm; Department of Clinical Neuroscience (K.B.), University of Gothenburg; and Department of Clinical Neuroscience (M.A., K.S., G.S., M.P., P.S.), Karolinska Institutet, Stockholm, Sweden.
Kristin SamuelssonDepartment of Neurology (M.A., K.S., G.S., M.P., P.S.), Karolinska University Hospital; Center for Neurology (M.A., P.S.), Academic Specialist Center; Department of Molecular Medicine and Surgery (K.L.-R.), Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Hospital; Department of Clinical Neurophysiology (G.S.), Karolinska University Hospital, Stockholm; Department of Clinical Neuroscience (K.B.), University of Gothenburg; and Department of Clinical Neuroscience (M.A., K.S., G.S., M.P., P.S.), Karolinska Institutet, Stockholm, Sweden.
Göran SoldersDepartment of Neurology (M.A., K.S., G.S., M.P., P.S.), Karolinska University Hospital; Center for Neurology (M.A., P.S.), Academic Specialist Center; Department of Molecular Medicine and Surgery (K.L.-R.), Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Hospital; Department of Clinical Neurophysiology (G.S.), Karolinska University Hospital, Stockholm; Department of Clinical Neuroscience (K.B.), University of Gothenburg; and Department of Clinical Neuroscience (M.A., K.S., G.S., M.P., P.S.), Karolinska Institutet, Stockholm, Sweden.
Kaj BlennowDepartment of Neurology (M.A., K.S., G.S., M.P., P.S.), Karolinska University Hospital; Center for Neurology (M.A., P.S.), Academic Specialist Center; Department of Molecular Medicine and Surgery (K.L.-R.), Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Hospital; Department of Clinical Neurophysiology (G.S.), Karolinska University Hospital, Stockholm; Department of Clinical Neuroscience (K.B.), University of Gothenburg; and Department of Clinical Neuroscience (M.A., K.S., G.S., M.P., P.S.), Karolinska Institutet, Stockholm, Sweden.
Martin PaucarDepartment of Neurology (M.A., K.S., G.S., M.P., P.S.), Karolinska University Hospital; Center for Neurology (M.A., P.S.), Academic Specialist Center; Department of Molecular Medicine and Surgery (K.L.-R.), Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Hospital; Department of Clinical Neurophysiology (G.S.), Karolinska University Hospital, Stockholm; Department of Clinical Neuroscience (K.B.), University of Gothenburg; and Department of Clinical Neuroscience (M.A., K.S., G.S., M.P., P.S.), Karolinska Institutet, Stockholm, Sweden.
Per SvenningssonDepartment of Neurology (M.A., K.S., G.S., M.P., P.S.), Karolinska University Hospital; Center for Neurology (M.A., P.S.), Academic Specialist Center; Department of Molecular Medicine and Surgery (K.L.-R.), Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Hospital; Department of Clinical Neurophysiology (G.S.), Karolinska University Hospital, Stockholm; Department of Clinical Neuroscience (K.B.), University of Gothenburg; and Department of Clinical Neuroscience (M.A., K.S., G.S., M.P., P.S.), Karolinska Institutet, Stockholm, Sweden.
University of Gothenburg · SE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo perform a comprehensive clinical characterization and biochemical CSF profile analyses in 2 Swedish families with hereditary spastic paraparesis (HSP) 10 (SPG10) caused by 2 different mutations in the neuronal kinesin heavy chain gene (

methodsStructured clinical assessment, genetic studies, and neuroradiologic and electrophysiological evaluations were performed in 4 patients from 2 families with SPG10. Additional CSF analysis was conducted in 3 patients with regard to levels of neurodegenerative markers and monoamine metabolism.

resultsAll patients exhibited a complex form of HSP with a mild to moderate concurrent axonal polyneuropathy. The heterozygous missense mutations c.767A>G and c.967C>T in

conclusionsWe report on CSF abnormalities in SPG10, demonstrating that NFL elevation is not a mandatory finding but may appear after long-standing disease. Impaired transportation of synaptic proteins may be a possible explanation for the increased dopaminergic turnover and noradrenergic deficiency identified. The reasons for these selective abnormalities, unrelated to obvious clinical features, remain to be explained. Our findings need further confirmation in larger cohorts of patients harboring

Identifiers

PMID31403080
PMCPMC6659133
OpenAlexW2953301121

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LicenceCC BY-NC-ND
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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.