Evidence map›Paper›PMID 36237940›Full record

ArticleClinical case reports2022

A case of Huntington disease-like 2 in a patient of African ancestry: the everlasting support of clinical examination in the molecular era.

Federica Ruscitti, Paola Origone, Giulia Rosti, Lucia Trevisan, Roberta Marchese, Andrea Brugnolo, Federico Massa, Paola Castellini, Paola Mandich

Open access · goldAbstract readCase Reports
In one paragraph

Article in Clinical case reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
0.3field-weighted citation impact, top 51% 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, 1 synthesis or guideline pooled it, 4 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. 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

9 authors at 2 institutions in 1 country.

Federica RuscittiDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa Genoa Italy.ORCID https://orcid.org/0000-0003-1857-7505
Paola OrigoneDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa Genoa Italy.
Giulia RostiDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa Genoa Italy.ORCID https://orcid.org/0000-0002-5949-803X
Lucia TrevisanDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa Genoa Italy.ORCID https://orcid.org/0000-0002-8608-4342
Roberta MarcheseIRCCS Ospedale Policlinico San Martino, Neurological Unit Genoa Italy.
Andrea BrugnoloDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa Genoa Italy.
Federico MassaDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa Genoa Italy.
Paola CastelliniIRCCS Ospedale Policlinico San Martino, Phoniatric Unit Genoa Italy.
Paola MandichDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) University of Genoa Genoa Italy.ORCID https://orcid.org/0000-0003-3123-3512
Ospedale Policlinico San Martino · ITUniversity of Genoa · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Chorea, cognitive decline, and psychiatric symptoms are shared by Huntington's disease (HD) and similar conditions called HD phenocopies. We describe the first case reported in Italy of Huntington disease-like 2 (HDL2), clinically and radiologically indistinguishable from HD, showing the importance of considering African ancestry in the diagnostic process.

Indexed as

brazilian ancestrychoreahuntington disease‐like 2JPH3

Identifiers

PMID36237940
PMCPMC9536496
OpenAlexW4302306714

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.