Evidence map›Paper›PMID 38170145›Full record

ArticleNeurology. Genetics2024

Mitofusin 2 Variant Presenting With a Phenotype of Multiple System Atrophy of Cerebellar Subtype.

Adrienne Elbert, Katherine Dixon, Yaoqing Shen, Sara Hamilton, Cornelius F Boerkoel, Steven J Jones, Anish K Kanungo

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

Article in Neurology. Genetics, 2024. 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
0.3field-weighted citation impact, top 35% 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, 2 citations in OpenAlex.

  1. Article
  2. Article
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 1 institution in 1 country.

Adrienne ElbertFrom the Department of Medical Genetics (A.E., K.D., C.F.B., S.J.J.), University of British Columbia; Provincial Medical Genetics Program (A.E., S.H., C.B.), B.C. Women's Hospital and Health Centre; Canada's Michael Smith Genome Sciences Centre (K.D., Y.S., S.J.J.), BC Cancer; Fraser Health Movement Disorders Clinic (A.K.K.), Jim Pattison Outpatient Care and Surgery Centre, Surrey; and Department of Medicine (A.K.K.), Division of Neurology, University of British Columbia, Vancouver, Canada.
Katherine DixonFrom the Department of Medical Genetics (A.E., K.D., C.F.B., S.J.J.), University of British Columbia; Provincial Medical Genetics Program (A.E., S.H., C.B.), B.C. Women's Hospital and Health Centre; Canada's Michael Smith Genome Sciences Centre (K.D., Y.S., S.J.J.), BC Cancer; Fraser Health Movement Disorders Clinic (A.K.K.), Jim Pattison Outpatient Care and Surgery Centre, Surrey; and Department of Medicine (A.K.K.), Division of Neurology, University of British Columbia, Vancouver, Canada.
Yaoqing ShenFrom the Department of Medical Genetics (A.E., K.D., C.F.B., S.J.J.), University of British Columbia; Provincial Medical Genetics Program (A.E., S.H., C.B.), B.C. Women's Hospital and Health Centre; Canada's Michael Smith Genome Sciences Centre (K.D., Y.S., S.J.J.), BC Cancer; Fraser Health Movement Disorders Clinic (A.K.K.), Jim Pattison Outpatient Care and Surgery Centre, Surrey; and Department of Medicine (A.K.K.), Division of Neurology, University of British Columbia, Vancouver, Canada.
Sara HamiltonFrom the Department of Medical Genetics (A.E., K.D., C.F.B., S.J.J.), University of British Columbia; Provincial Medical Genetics Program (A.E., S.H., C.B.), B.C. Women's Hospital and Health Centre; Canada's Michael Smith Genome Sciences Centre (K.D., Y.S., S.J.J.), BC Cancer; Fraser Health Movement Disorders Clinic (A.K.K.), Jim Pattison Outpatient Care and Surgery Centre, Surrey; and Department of Medicine (A.K.K.), Division of Neurology, University of British Columbia, Vancouver, Canada.
Cornelius F BoerkoelFrom the Department of Medical Genetics (A.E., K.D., C.F.B., S.J.J.), University of British Columbia; Provincial Medical Genetics Program (A.E., S.H., C.B.), B.C. Women's Hospital and Health Centre; Canada's Michael Smith Genome Sciences Centre (K.D., Y.S., S.J.J.), BC Cancer; Fraser Health Movement Disorders Clinic (A.K.K.), Jim Pattison Outpatient Care and Surgery Centre, Surrey; and Department of Medicine (A.K.K.), Division of Neurology, University of British Columbia, Vancouver, Canada.ORCID https://orcid.org/0000-0003-3097-241X
Steven J JonesFrom the Department of Medical Genetics (A.E., K.D., C.F.B., S.J.J.), University of British Columbia; Provincial Medical Genetics Program (A.E., S.H., C.B.), B.C. Women's Hospital and Health Centre; Canada's Michael Smith Genome Sciences Centre (K.D., Y.S., S.J.J.), BC Cancer; Fraser Health Movement Disorders Clinic (A.K.K.), Jim Pattison Outpatient Care and Surgery Centre, Surrey; and Department of Medicine (A.K.K.), Division of Neurology, University of British Columbia, Vancouver, Canada.
Anish K KanungoFrom the Department of Medical Genetics (A.E., K.D., C.F.B., S.J.J.), University of British Columbia; Provincial Medical Genetics Program (A.E., S.H., C.B.), B.C. Women's Hospital and Health Centre; Canada's Michael Smith Genome Sciences Centre (K.D., Y.S., S.J.J.), BC Cancer; Fraser Health Movement Disorders Clinic (A.K.K.), Jim Pattison Outpatient Care and Surgery Centre, Surrey; and Department of Medicine (A.K.K.), Division of Neurology, University of British Columbia, Vancouver, Canada.
University of British Columbia · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objectives: To investigate the etiology of cerebellar ataxia in an adult male patient. Methods: We performed standard neurologic assessment and genome sequencing of a 62-year-old man with rapidly progressive balance and gait abnormalities. Results: The propositus exhibited cognitive dysfunction, mild appendicular bradykinesia, prominent appendicular ataxia, dysarthria, and hypomimia with minimal dysautonomic symptoms. Nerve conduction studies showed mild peripheral sensory neuropathy and normal motor nerve conduction velocities. Brain imaging showed progressive cerebellar atrophy and gliosis of the olivopontocerebellar fibers, characterized by T2 hyperintensity within the pons. Genetic testing revealed a likely pathogenic germline variant in Discussion: We describe progressive cerebellar ataxia in an individual with a deleterious variant in

Identifiers

PMID38170145
PMCPMC10759145
OpenAlexW4389469460

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.