Evidence map›Paper›PMID 42616279›Full record

ArticleCerebellum (London, England)2026

The Real Life of Ataxia Patients Without a Vertical Family History: a Twenty-year Experience in South Brazil.

Carlos Alberto Moura Aschoff, Thiago Oliveira Silva, Ali Hasan, Elaine Migliorini, Karina Carvalho Donis, Rare Genomes Project Consortium, David Pellerin, Maria Luiza Saraiva-Pereira, Sandra Leistner, Fabiano Poswar and 5 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Cerebellum (London, England), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

15 authors.

Carlos Alberto Moura AschoffPrograma de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Avenida Bento Gonçalves 9500, Porto Alegre, 91501-970, Brazil.
Thiago Oliveira SilvaPrograma de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Avenida Bento Gonçalves 9500, Porto Alegre, 91501-970, Brazil.
Ali HasanPrograma de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Avenida Bento Gonçalves 9500, Porto Alegre, 91501-970, Brazil.
Elaine MiglioriniCentro de Pesquisa Clínica do Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos 2350, Porto Alegre, 90035-007, Brazil.
Karina Carvalho DonisServiço de Genética Médica do Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos 2350, Porto Alegre, 90035-007, Brazil.
Rare Genomes Project ConsortiumHospital Israelita Albert Einstein, Avenida Albert Einstein 627, São Paulo, 05652-900, Brazil.
David PellerinDepartment of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, 3801 University Street, Montreal, QC, H3A 2B4, Canada.
Maria Luiza Saraiva-PereiraPrograma de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Avenida Bento Gonçalves 9500, Porto Alegre, 91501-970, Brazil.
Sandra LeistnerServiço de Genética Médica do Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos 2350, Porto Alegre, 90035-007, Brazil.
Fabiano PoswarPrograma de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Avenida Bento Gonçalves 9500, Porto Alegre, 91501-970, Brazil.
Roberto GiuglianiPrograma de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Avenida Bento Gonçalves 9500, Porto Alegre, 91501-970, Brazil.
Cristina Brinckmann Oliveira NettoServiço de Genética Médica do Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos 2350, Porto Alegre, 90035-007, Brazil.
Patrícia Ashton-ProllaPrograma de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Avenida Bento Gonçalves 9500, Porto Alegre, 91501-970, Brazil.
Jonas Alex Morales SautePrograma de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Avenida Bento Gonçalves 9500, Porto Alegre, 91501-970, Brazil.
Laura Bannach JardimPrograma de Pós-Graduação em Genética e Biologia Molecular, Universidade Federal do Rio Grande do Sul, Avenida Bento Gonçalves 9500, Porto Alegre, 91501-970, Brazil. ljardim@hcpa.edu.br.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Studies of hereditary ataxias (HA) without vertical family history are necessary for designing diagnostic protocols. We described the 20 years' experience of a Brazilian reference service with these cases through a retrospective cohort study of subjects evaluated from 2002 to 2020 in a university hospital. Tests for Friedreich ataxia, alpha-fetoprotein, common dominant ataxias, and brain imaging were the first steps, whereas ataxia Sanger panel, exome or genome sequencings (NGS) were the last ones. The outcomes were: diagnosis; no diagnosis after NGS; or incomplete diagnostic investigation. Diagnoses and diagnostic yields were also presented. 174 subjects started investigation and 120 came to the second visit: 45/120 received a diagnosis, 12/120 finished their investigation without a diagnosis, and 63/120 were incompletely investigated. Higher-than-expected proportions of white subjects and of people coming from small communities were found. Most common diagnoses were Friedreich ataxia, ataxia-telangiectasia, Coenzyme Q10 deficiency, Niemann-Pick type C, ataxia with oculoapraxia type 2, and spinocerebellar ataxia type 2. Thirty-two subjects were investigated by NGS; among them, 5/7 ataxia Sanger panels, 9/17 exome and 1/7 genome sequencings got a molecular diagnosis, with diagnostic yields of 71.4%, 52.9% and 14%, respectively. The high proportion of patients lost to follow-up, cases with incomplete investigation and white individuals suggest problems in the access to healthcare. Exome and Sanger panels were the most efficient methods for reaching a diagnosis. The fact they are not easily available in the public health system is an important barrier to overcome, hopefully soon.

Indexed as

AtaxiaAdolescentAdultAgedBrazilChildChild, PreschoolFemaleHumansMaleMiddle AgedRetrospective StudiesYoung AdultAtaxia simplexHealthcare accessHealthcare delayHereditary ataxiasNext generation sequencingRecessive ataxias

Identifiers

PMID42616279
PMCPMC13490217

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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.