Evidence map›Paper›PMID 31554751›Full record

ArticleInternal medicine (Tokyo, Japan)2020

The First Case of Spinocerebellar Ataxia Type 8 in Monozygotic Twins.

Jun Sawada, Takayuki Katayama, Takashi Tokashiki, Shiori Kikuchi, Kohei Kano, Kae Takahashi, Tsukasa Saito, Yoshiki Adachi, Yuji Okamoto, Akiko Yoshimura and 2 more

Open access · diamondAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Internal medicine (Tokyo, Japan), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Review
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

12 authors at 3 institutions in 1 country.

Jun SawadaDivision of Neurology, Department of Internal Medicine, Asahikawa Medical University, Japan.
Takayuki KatayamaDivision of Neurology, Department of Internal Medicine, Asahikawa Medical University, Japan.
Takashi TokashikiDepartment of Neurology, National Hospital Organization Okinawa Hospital, Japan.
Shiori KikuchiDivision of Neurology, Department of Internal Medicine, Asahikawa Medical University, Japan.
Kohei KanoDivision of Neurology, Department of Internal Medicine, Asahikawa Medical University, Japan.
Kae TakahashiDivision of Neurology, Department of Internal Medicine, Asahikawa Medical University, Japan.
Tsukasa SaitoDivision of Neurology, Department of Internal Medicine, Asahikawa Medical University, Japan.
Yoshiki AdachiDepartment of Neurology, National Hospital Organization Matsue Medical Center, Japan.
Yuji OkamotoDepartment of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan.
Akiko YoshimuraDepartment of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan.
Hiroshi TakashimaDepartment of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan.
Naoyuki HasebeDivision of Neurology, Department of Internal Medicine, Asahikawa Medical University, Japan.
Asahikawa Medical University · JPKagoshima University · JPNational Hospital Organization · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Spinocerebellar ataxia type 8 (SCA8) is a rare hereditary cerebellar ataxia showing mainly pure cerebellar ataxia. We herein report cases of SCA8 in Japanese monozygotic twins that presented with nystagmus, dysarthria, and limb and truncal ataxia. Their ATXN8OS CTA/CTG repeats were 25/97. They showed similar manifestations, clinical courses, and cerebellar atrophy on magnetic resonance imaging. Some of their pedigrees had nystagmus but not ataxia. These are the first monozygotic twins with SCA8 to be reported anywhere in the world. Although not all subjects with the ATXN8OS CTG expansion develop cerebellar ataxia, these cases suggest the pathogenesis of ATXN8OS repeat expansions in hereditary cerebellar ataxia.

Indexed as

Twins, MonozygoticAdultFemaleHumansMagnetic Resonance ImagingPedigreeRNA, Long NoncodingSpinocerebellar DegenerationsTrinucleotide Repeat ExpansionATXN8OS gene product, humanRNA, Long NoncodingCTA/CTG repeatsmagnetic resonance imagingmonozygotic twinSpinocerebellar ataxia type 8 (SCA8)

Identifiers

PMID31554751
PMCPMC7008061
OpenAlexW2977206524

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.