Clinical manifestations and gene mutation in a case of Machado-Joseph disease.

Bin Zhang, Liru Li, Longxing Chen, Jie Huang

Abstract readCase Reports

In one paragraph

Article in Neural regeneration research, 2012. 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, top 99% 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

0 citing papers in PubMed, 0 citations in OpenAlex.

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

4 authors at 1 institution in 1 country.

Bin ZhangDepartment of Neurology, Branch Hospital in Fengxian of Sixth People's Hospital, Shanghai Neurological Research Institute of Anhui University of Science & Technology, the Affiliated Hospital of Anhui University of Science & Technology, Shanghai 201499, China.

Liru LiDepartment of Emergency, Branch Hospital in Fengxian of Sixth People's Hospital, Shanghai Neurological Research Institute of Anhui University of Science & Technology, the Affiliated Hospital of Anhui University of Science & Technology, Shanghai 201499, China.

Longxing ChenDepartment of Radiology, Branch Hospital in Fengxian of Sixth People's Hospital, Shanghai Neurological Research Institute of Anhui University of Science & Technology, the Affiliated Hospital of Anhui University of Science & Technology, Shanghai 201499, China.

Jie HuangDepartment of Neurology, Branch Hospital in Fengxian of Sixth People's Hospital, Shanghai Neurological Research Institute of Anhui University of Science & Technology, the Affiliated Hospital of Anhui University of Science & Technology, Shanghai 201499, China.

Shanghai Sixth People's Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This study reports a case of a 75-year-old female Machado-Joseph disease patient exhibiting unstable walking and inaccurate hand holding for 8 months, which progressively worsened. Physical examination on admission showed cerebellar ataxia and a history of hypertension. Cranial MRI demonstrated cerebellar and brain stem atrophy. Gene analysis showed abnormal amplification of the CAG trinucleotide repeat in exon 10 of the ataxin-3 (ATXN3) gene, resulting in 70-81 CAG repeats in the patient, with a significant positive family history.

Indexed as

clinical characteristicsexon 10gene mutationimagingmachado-Joseph diseasemolecular geneticsnervous system diseasespinocerebellar ataxiaspinocerebellar ataxia-3 gene

Identifiers

PMID25317135

DOI10.3969/j.issn.1673-5374.2012.35.013

PMCPMC4190867

OpenAlexW107815293

What OpenQuestion holds

Textmetadata

LicenceCC BY-NC-SA

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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.