Evidence map›Paper›PMID 32280793›Full record

ArticleeNeurologicalSci2020

A novel mutation in the

Keiko Nakamura-Shindo, Kenjiro Ono, Kishin Koh, Hiroyuki Ishiura, Shoji Tsuji, Yoshihisa Takiyama, Masahito Yamada

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

Article in eNeurologicalSci, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.5field-weighted citation impact, top 42% 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

3 citing papers in PubMed, 6 citations in OpenAlex.

  1. Review
  2. Hereditary Spastic Paraplegia: An Update.International journal of molecular sciences · 2022
    Review
  3. Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021
    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

7 authors at 4 institutions in 1 country.

Keiko Nakamura-ShindoDepartment of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-machi, Kanazawa, Japan.
Kenjiro OnoDepartment of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-machi, Kanazawa, Japan.
Kishin KohDepartment of Neurology, Graduate School of Medical Sciences, University of Yamanashi, 1110 Shimokato, Chuou-city, Yamanashi, Japan.
Hiroyuki IshiuraDepartment of Neurology, The University of Tokyo Hospital, 7-3-1 Hongo, Bunkyo-ku, Tokyo, Japan.
Shoji TsujiDepartment of Molecular Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, Japan.
Yoshihisa TakiyamaDepartment of Neurology, Graduate School of Medical Sciences, University of Yamanashi, 1110 Shimokato, Chuou-city, Yamanashi, Japan.
Masahito YamadaDepartment of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-machi, Kanazawa, Japan.
Kanazawa University · JPUniversity of Yamanashi · JPInternational University of Health and Welfare · JPUniversity of Tokyo Hospital · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder characterized by pyramidal weakness and spasticity of the lower limbs. SPG46, one of autosomal recessive HSP, is clinically characterized by spasticity and pyramidal weakness of the lower limbs, mental retardation, congenital bilateral cataract, thin corpus callosum, and hypogonadism in males. Mutations in the nonlysosomal glucosylceramidase β2 (

Indexed as

CataractCorpus callosumGBA2GBA2, glucosylceramidase β2HSP, Hereditary spastic paraplegiaSpastic paraplegiaSpastic paraplegia gene 46SPG, spastic paraplegia gene

Identifiers

PMID32280793
PMCPMC7139103
OpenAlexW3015100926

What Socratic 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 Socratic graph.