Evidence map›Paper›PMID 42699715›Full record

ArticleNeurology. Genetics2026

Characteristics of a Cohort of Individuals With SCA27B Associated With Repeat Expansions in

Sarah C Anderson, Shilpan G Patel, Miriam Rodrigues, Marco Mancuso-Marcello, Mark Simpson

Abstract read
In one paragraph

Article in Neurology. Genetics, 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

5 authors.

Sarah C AndersonDepartment of Neurology, Te Toka Tumai Auckland, Auckland City Hospital, Te Whatu Ora Health New Zealand; and.ORCID https://orcid.org/0000-0001-9442-1292
Shilpan G PatelDepartment of Neurology, Te Toka Tumai Auckland, Auckland City Hospital, Te Whatu Ora Health New Zealand; and.ORCID https://orcid.org/0000-0002-0633-9035
Miriam RodriguesDepartment of Neurology, Te Toka Tumai Auckland, Auckland City Hospital, Te Whatu Ora Health New Zealand; and.ORCID https://orcid.org/0000-0003-1215-4165
Marco Mancuso-MarcelloDepartment of Radiology, Te Toka Tumai Auckland, Auckland City Hospital, Te Whatu Ora Health New Zealand.ORCID https://orcid.org/0000-0001-9412-9099
Mark SimpsonDepartment of Neurology, Te Toka Tumai Auckland, Auckland City Hospital, Te Whatu Ora Health New Zealand; and.ORCID https://orcid.org/0000-0002-5787-7490

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: Spinocerebellar ataxia 27B (SCA27B) is a recently discovered genetic cause of idiopathic late-onset cerebellar ataxia (ILOCA) due to guanine-adenine-adenine (GAA) repeat expansions (greater than 250) in Methods: Patients with previous negative ataxia panels were identified from electronic records and tested with an updated ataxia repeat expansion panel including Results: Updated genetic testing for 11 of the 29 patients returned a positive result: repeat expansions in Discussion: In our New Zealand cohort of patients with ILOCA, updated genetic testing revealed a diagnosis in 38%. SCA27B is a common cause of ILOCA in this cohort.

Identifiers

PMID42699715
PMCPMC13544125

What OpenQuestion holds

Textmetadata
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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.