Evidence map›Paper›PMID 39611136›Full record

ArticleNeurology. Genetics2024

Adult Neuropsychiatric Manifestation of Hartnup Disease With a Novel

Tobias Bachmann, Helene Faust, Rami Abou Jamra, Christina Pott, Michael Kluge, Jost-Julian Rumpf, Florian Then Bergh, Skadi Beblo

Abstract read
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In one paragraph

Article in Neurology. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
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

1 citing paper in PubMed.

  1. Review
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

8 authors.

Tobias BachmannFrom the Department of Neurology (T.B., J.-J.R., F.T.B.), University Hospital Leipzig; Institute of Human Genetics (H.F., R.A.J.), University Hospital Leipzig; Department of Psychiatry (C.P., M.K.), University of Leipzig; Hospital for Psychiatry (M.K.), Psychotherapy und Psychosomatics, Klinikum Glauchau; Department of Pediatrics (S.B.), University Hospital Leipzig; and Centre for Rare Diseases (S.B., F.T.B.), University Hospital Leipzig, Germany.
Helene FaustFrom the Department of Neurology (T.B., J.-J.R., F.T.B.), University Hospital Leipzig; Institute of Human Genetics (H.F., R.A.J.), University Hospital Leipzig; Department of Psychiatry (C.P., M.K.), University of Leipzig; Hospital for Psychiatry (M.K.), Psychotherapy und Psychosomatics, Klinikum Glauchau; Department of Pediatrics (S.B.), University Hospital Leipzig; and Centre for Rare Diseases (S.B., F.T.B.), University Hospital Leipzig, Germany.
Rami Abou JamraFrom the Department of Neurology (T.B., J.-J.R., F.T.B.), University Hospital Leipzig; Institute of Human Genetics (H.F., R.A.J.), University Hospital Leipzig; Department of Psychiatry (C.P., M.K.), University of Leipzig; Hospital for Psychiatry (M.K.), Psychotherapy und Psychosomatics, Klinikum Glauchau; Department of Pediatrics (S.B.), University Hospital Leipzig; and Centre for Rare Diseases (S.B., F.T.B.), University Hospital Leipzig, Germany.ORCID https://orcid.org/0000-0002-1542-1399
Christina PottFrom the Department of Neurology (T.B., J.-J.R., F.T.B.), University Hospital Leipzig; Institute of Human Genetics (H.F., R.A.J.), University Hospital Leipzig; Department of Psychiatry (C.P., M.K.), University of Leipzig; Hospital for Psychiatry (M.K.), Psychotherapy und Psychosomatics, Klinikum Glauchau; Department of Pediatrics (S.B.), University Hospital Leipzig; and Centre for Rare Diseases (S.B., F.T.B.), University Hospital Leipzig, Germany.
Michael KlugeFrom the Department of Neurology (T.B., J.-J.R., F.T.B.), University Hospital Leipzig; Institute of Human Genetics (H.F., R.A.J.), University Hospital Leipzig; Department of Psychiatry (C.P., M.K.), University of Leipzig; Hospital for Psychiatry (M.K.), Psychotherapy und Psychosomatics, Klinikum Glauchau; Department of Pediatrics (S.B.), University Hospital Leipzig; and Centre for Rare Diseases (S.B., F.T.B.), University Hospital Leipzig, Germany.
Jost-Julian RumpfFrom the Department of Neurology (T.B., J.-J.R., F.T.B.), University Hospital Leipzig; Institute of Human Genetics (H.F., R.A.J.), University Hospital Leipzig; Department of Psychiatry (C.P., M.K.), University of Leipzig; Hospital for Psychiatry (M.K.), Psychotherapy und Psychosomatics, Klinikum Glauchau; Department of Pediatrics (S.B.), University Hospital Leipzig; and Centre for Rare Diseases (S.B., F.T.B.), University Hospital Leipzig, Germany.
Florian Then BerghFrom the Department of Neurology (T.B., J.-J.R., F.T.B.), University Hospital Leipzig; Institute of Human Genetics (H.F., R.A.J.), University Hospital Leipzig; Department of Psychiatry (C.P., M.K.), University of Leipzig; Hospital for Psychiatry (M.K.), Psychotherapy und Psychosomatics, Klinikum Glauchau; Department of Pediatrics (S.B.), University Hospital Leipzig; and Centre for Rare Diseases (S.B., F.T.B.), University Hospital Leipzig, Germany.
Skadi BebloFrom the Department of Neurology (T.B., J.-J.R., F.T.B.), University Hospital Leipzig; Institute of Human Genetics (H.F., R.A.J.), University Hospital Leipzig; Department of Psychiatry (C.P., M.K.), University of Leipzig; Hospital for Psychiatry (M.K.), Psychotherapy und Psychosomatics, Klinikum Glauchau; Department of Pediatrics (S.B.), University Hospital Leipzig; and Centre for Rare Diseases (S.B., F.T.B.), University Hospital Leipzig, Germany.ORCID https://orcid.org/0000-0002-7376-6512

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: In adults, inborn metabolic diseases are often missed in routine diagnostic settings due to a low level of suspicion. Methods: A patient in their twenties was admitted for an apparent acute exacerbation of anxiety disorder. Medical treatment was unsuccessful, and presumed catatonic psychosis was treated by electroconvulsive treatment. The patient was referred to neurology with reduced level of consciousness, mutism with no targeted movements, obvious anxiety and tetraspasticity, eczema, and reduced body weight. Results: EEG was normal; repeat brain MRI showed progressive atrophy and leukoencephalopathy. Autoimmune encephalitis was assumed and treated with plasma exchange, high-dose glucocorticoids, and intravenous immunoglobulin. Repeated CSF analyses remained normal. Metabolic workup showed hyperaminociduria, low neutral amino acids, and undetectable tryptophane. Whole-exome sequencing and segregation analysis revealed compound heterozygous, pathogenic and a novel, likely pathogenic variant in the Discussion: Metabolic workup and whole-exome sequencing are recommended in rapidly progressive neuropsychiatric disease, especially with additional neurologic signs and when standard treatment fails.

Identifiers

PMID39611136
PMCPMC11604106

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