Evidence map›Paper›PMID 31178521›Full record

ArticleInternal medicine (Tokyo, Japan)2019

Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich Ataxia.

Hiroya Naruse, Yuji Takahashi, Hiroyuki Ishiura, Takashi Matsukawa, Jun Mitsui, Yaeko Ichikawa, Masashi Hamada, Jun Shimizu, Jun Goto, Tatsushi Toda and 1 more

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In one paragraph

Article in Internal medicine (Tokyo, Japan), 2019. 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 93% 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

11 authors at 5 institutions in 1 country.

Hiroya NaruseDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Yuji TakahashiDepartment of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan.
Hiroyuki IshiuraDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Takashi MatsukawaDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Jun MitsuiDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Yaeko IchikawaDepartment of Neurology, Faculty of Medicine, Kyorin University, Japan.
Masashi HamadaDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Jun ShimizuDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Jun GotoDepartment of Neurology, International University of Health and Welfare Mita Hospital, Japan.
Tatsushi TodaDepartment of Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
Shoji TsujiDepartment of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, Japan.
The University of Tokyo · JPInternational University of Health and Welfare · JPKyorin University · JPMita Hospital · JPNational Center of Neurology and Psychiatry · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Friedreich ataxia (FRDA) is an autosomal recessive spinocerebellar ataxia caused by mutations of FXN. Hypotonus and hyporeflexia of the lower extremities are observed in most FRDA patients. Patients with hyperreflexia, called Friedreich ataxia with retained reflexes (FARR), have also been identified. We herein report the case of a 16-year-old Nepalese boy presenting with early-onset ataxia with prominent spasticity and hyperreflexia of the legs. Mutational analyses established the diagnosis of FRDA presenting as FARR. A haplotype analysis revealed that expanded alleles of the patient shared a common haplotype with Indian and European FRDA patients, suggesting that the mutation descended from a common founder.

Indexed as

AdolescentAllelesDNA Mutational AnalysisFrataxinFriedreich AtaxiaHaplotypesHumansIron-Binding ProteinsMaleMuscle SpasticityMutationNepalReflex, AbnormalTrinucleotide Repeat ExpansionFrataxinIron-Binding ProteinsFriedreich ataxiaFriedreich ataxia with retained reflexes (FARR)haplotype analysisNepalese

Identifiers

PMID31178521
PMCPMC6815894
OpenAlexW2953287961

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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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.