Evidence map›Paper›PMID 36964315›Full record

ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2023

Spectrum of SPTLC1-related disorders: a novel case of 'Ser331 syndrome' that expand the phenotype of hereditary sensory and autonomic neuropathy type 1A and motor neuron diseases.

Paulo José Lorenzoni, Dafne Luana Bayer, Renata Dal-Prá Ducci, Otto Jesus Hernandez Fustes, Paula Raquel do Vale Pascoal Rodrigues, Lineu Cesar Werneck, Cláudia Suemi Kamoi Kay, Rosana Herminia Scola

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In one paragraph

Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023. 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
0.6field-weighted citation impact, top 38% 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, 4 citations in OpenAlex.

  1. Human genetic defects of sphingolipid synthesis.Journal of inherited metabolic disease · 2025
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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

8 authors at 1 institution in 1 country.

Paulo José LorenzoniService of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal Do Paraná (UFPR), Curitiba, 80060-900, Brazil. lorenzoni@ufpr.br.ORCID http://orcid.org/0000-0002-4457-7771
Dafne Luana BayerService of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal Do Paraná (UFPR), Curitiba, 80060-900, Brazil.ORCID http://orcid.org/0000-0002-2817-8105
Renata Dal-Prá DucciService of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal Do Paraná (UFPR), Curitiba, 80060-900, Brazil.ORCID http://orcid.org/0000-0002-1673-5074
Otto Jesus Hernandez FustesService of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal Do Paraná (UFPR), Curitiba, 80060-900, Brazil.ORCID http://orcid.org/0000-0003-0778-5376
Paula Raquel do Vale Pascoal RodriguesService of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal Do Paraná (UFPR), Curitiba, 80060-900, Brazil.ORCID http://orcid.org/0000-0002-8024-0009
Lineu Cesar WerneckService of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal Do Paraná (UFPR), Curitiba, 80060-900, Brazil.ORCID http://orcid.org/0000-0003-1921-1038
Cláudia Suemi Kamoi KayService of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal Do Paraná (UFPR), Curitiba, 80060-900, Brazil.ORCID http://orcid.org/0000-0003-0173-0809
Rosana Herminia ScolaService of Neuromuscular Disorders, Division of Neurology, Department of Internal Medicine, Hospital de Clínicas, Universidade Federal Do Paraná (UFPR), Curitiba, 80060-900, Brazil.ORCID http://orcid.org/0000-0002-3957-5317
Hospital de Clínicas Universidade Federal do Paraná · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report a patient with early-onset hereditary sensory and autonomic neuropathy type 1A (HSAN-1A) who developed a distinct phenotype, with tongue fasciculation and atrophy, due to a mutation at serine 331 in the SPTLC1 gene. HSAN-1A manifestation causing tongue fasciculation and atrophy have been rarely found. Our report adds to the growing evidence of the existence of an overlap between hereditary neuropathy and motor neuron disease caused by pathogenic p.S331Y variant in SPTLC1 gene.

Indexed as

Hereditary Sensory and Autonomic NeuropathiesMotor Neuron DiseaseAtrophyFasciculationHumansMutationPhenotypeSerine C-PalmitoyltransferaseSerine C-PalmitoyltransferaseSPTLC1 protein, humanFasciculationHereditary neuropathyMotor neuron diseaseSPTLC1 gene

Identifiers

PMID36964315
OpenAlexW4360827681

What OpenQuestion holds

Textmetadata
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.