Evidence map›Paper›PMID 41300170›Full record

ArticleBrain sciences2025

Hereditary Sensory and Autonomic Neuropathy Type 2: A Case Report and a Review of the Literature.

Cosmanna Ragucci, Alessandro Furia, Flavia Palombo, Maria Pia Giannoccaro, Veria Vacchiano, Alex Incensi, Vitantonio Di Stasi, Giovanni Rizzo, Rocco Liguori, Vincenzo Angelo Donadio

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Brain sciences, 2025. 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. Article
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

10 authors.

Cosmanna RagucciDipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, 40138 Bologna, Italy.ORCID 0009-0005-4534-205X
Alessandro FuriaIRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, 40139 Bologna, Italy.ORCID 0000-0002-7385-2744
Flavia PalomboIRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, 40139 Bologna, Italy.
Maria Pia GiannoccaroDipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, 40138 Bologna, Italy.ORCID 0000-0003-2208-376X
Veria VacchianoIRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, 40139 Bologna, Italy.ORCID 0000-0002-3607-2394
Alex IncensiIRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, 40139 Bologna, Italy.
Vitantonio Di StasiIRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, 40139 Bologna, Italy.
Giovanni RizzoIRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, 40139 Bologna, Italy.ORCID 0000-0002-9718-2044
Rocco LiguoriDipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, 40138 Bologna, Italy.ORCID 0000-0002-1815-1013
Vincenzo Angelo DonadioDipartimento di Scienze Biomediche e Neuromotorie, Università di Bologna, 40138 Bologna, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report a case of hereditary sensory and autonomic neuropathy presenting with childhood-onset symmetric distally predominant limb hypoesthesia to tactile, thermal, and painful stimuli. Exome sequencing identified a homozygous pathogenic variant in the with-no-lysine (K) kinase 1 (

Indexed as

hereditary sensory and autonomic neuropathy type 2AWNK1/HSN2 gene

Identifiers

PMID41300170
PMCPMC12650649

What OpenQuestion holds

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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.