Evidence map›Paper›PMID 28924877›Full record

ArticleJournal of inherited metabolic disease2018

Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.

Alice Kuster, Jean-Baptiste Arnoux, Magalie Barth, Delphine Lamireau, Nada Houcinat, Cyril Goizet, Bérénice Doray, Stéphanie Gobin, Manuel Schiff, Aline Cano and 11 more

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In one paragraph

Article in Journal of inherited metabolic disease, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 1 pooled it
0.6field-weighted citation impact, top 33% 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

9 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.

  1. Pooled it
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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

21 authors at 12 institutions in 1 country.

Alice KusterNeurometabolism department, Nantes Hospital and University, Nantes, France.
Jean-Baptiste ArnouxReference center for inherited metabolic diseases, Necker Enfants-Malades Hospital, Assistance Publique Hôpitaux de Paris, Imagine Institute, Paris Descartes University, Paris, France.
Magalie BarthNeurometabolism department, Angers Hospital and University, Angers, France.
Delphine LamireauNeuropediatric and Neurogenetic department, MRGM laboratory, National institute for health and medical research U1211, Pellegrin Hospital and University, Bordeaux, France.
Nada HoucinatNeuropediatric and Neurogenetic department, MRGM laboratory, National institute for health and medical research U1211, Pellegrin Hospital and University, Bordeaux, France.
Cyril GoizetNeuropediatric and Neurogenetic department, MRGM laboratory, National institute for health and medical research U1211, Pellegrin Hospital and University, Bordeaux, France.
Bérénice DorayGenetic department, Félix Guyon Hospital and University, Saint-Denis de la Réunion, France.
Stéphanie GobinGenetic department, Necker-Enfants Malades Hospital, Assistance Publique Hôpitaux de Paris, Paris, France.
Manuel SchiffNeurometabolism and Biochemical department, Robert Debré Hospital and University, Paris, France.
Aline CanoReference center for inherited metabolic diseases, la Timone-Marseille Hospital and University, Marseille, France.
Daniel AmsallemNeuropediatric department, Jean Minjoz Hospital, Besançon, France.
Christine BarneriasNeurology department, Necker Enfants Malades Hospital and Paris Descartes University, Paris, France.
Boris ChaumetteSainte Anne Hospital, University Hospital Department (SHU), Paris Descartes University and Institut National de la Santé et de la Recherche Médicale INSERM U894, CNRS GDR, 3557, Paris, France.
Marion PlazeSainte Anne Hospital, University Hospital Department (SHU), Paris Descartes University and Institut National de la Santé et de la Recherche Médicale INSERM U894, CNRS GDR, 3557, Paris, France.
Abdelhamid SlamaBiochemical department, Bicêtre Hospital, Assistance Publique Hôpitaux de Paris, Le Kremlin Bicêtre, France.
Christine IoosNeuropediatric department, Raymond Poincaré Hospital, Garches, France.
Isabelle DesguerreNeurology department, Necker Enfants Malades Hospital and Paris Descartes University, Paris, France.
Anne-Sophie LebreGenetic and Biological department, Reims University, Maison Blanche Hospital, F-51092, Reims, France.
Pascale de LonlayReference center for inherited metabolic diseases, Necker Enfants-Malades Hospital, Assistance Publique Hôpitaux de Paris, Imagine Institute, Paris Descartes University, Paris, France.
Laurence ChristaMetabolomic and proteomic Biochemical department, Necker Enfants-Malades Hospital, Paris Descartes University, Paris, France. christablr@aol.com.ORCID 0000-0002-4516-2877
Individual contributors who contributed to this work
Hôpital Necker-Enfants Malades · FRHôpital Pellegrin · FRDélégation Paris 5 · FRAssistance Publique Hôpitaux de Marseille · FRAssistance Publique – Hôpitaux de Paris · FRCentre Hospitalier Universitaire de La Réunion · FRCentre Hospitalier Universitaire de Reims · FRHôpital Privé Jean Mermo · FRHôpital Raymond-Poincaré · FRHôpital Robert-Debré · FRNantes Université · FRUniversité d'Angers · FR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND AND

aimTo improve the diagnostic work-up of patients with diverse neurological diseases, we have elaborated specific clinical and CSF neurotransmitter patterns.

methodsNeurotransmitter determinations in CSF from 1200 patients revealed abnormal values in 228 (19%) cases. In 54/228 (24%) patients, a final diagnosis was identified.

resultsWe have reported primary (30/54, 56%) and secondary (24/54, 44%) monoamine neurotransmitter disorders. For primary deficiencies, the most frequently mutated gene was DDC (n = 9), and the others included PAH with neuropsychiatric features (n = 4), PTS (n = 5), QDPR (n = 3), SR (n = 1), and TH (n = 1). We have also identified mutations in SLC6A3, FOXG1 (n = 1 of each), MTHFR (n = 3), FOLR1, and MTHFD (n = 1 of each), for dopamine transporter, neuronal development, and folate metabolism disorders, respectively. For secondary deficiencies, we have identified POLG (n = 3), ACSF3 (n = 1), NFU1, and SDHD (n = 1 of each), playing a role in mitochondrial function. Other mutated genes included: ADAR, RNASEH2B, RNASET2, SLC7A2-IT1 A/B lncRNA, and EXOSC3 involved in nuclear and cytoplasmic metabolism; RanBP2 and CASK implicated in post-traductional and scaffolding modifications; SLC6A19 regulating amino acid transport; MTM1, KCNQ2 (n = 2), and ATP1A3 playing a role in nerve cell electrophysiological state. Chromosome abnormalities, del(8)(p23)/dup(12) (p23) (n = 1), del(6)(q21) (n = 1), dup(17)(p13.3) (n = 1), and non-genetic etiologies (n = 3) were also identified.

conclusionWe have classified the final 54 diagnoses in 11 distinctive biochemical profiles and described them through 20 clinical features. To identify the specific molecular cause of abnormal NT profiles, (targeted) genomics might be used, to improve diagnosis and allow early treatment of complex and rare neurological genetic diseases.

Indexed as

DNA Mutational AnalysisGene Expression ProfilingBiogenic MonoaminesBiomarkersBrain Diseases, Metabolic, InbornGenetic MarkersGenetic Predisposition to DiseaseHumansMutationPhenotypePredictive Value of TestsPrognosisRegistriesRetrospective StudiesBiogenic MonoaminesBiomarkersGenetic MarkersNeurotransmitter disordersPrimary and secondary diagnoses

Identifiers

PMID28924877
OpenAlexW2756466554

What OpenQuestion holds

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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.