Evidence map›Paper›PMID 41222985›Full record

ReviewJournal of neuromuscular diseases2026

Lola Er Lessard, Danielle K Bourque, Pierre J Bourque, Hanns Lochmüller, Joaquin Machado, Giulia F Del Gobbo, Aren E Marshall, Ian C Smith, Care4Rare Canada Consortium, Kym M Boycott and 2 more

Abstract readCase ReportsReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Journal of neuromuscular diseases, 2026. 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
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.

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

12 authors.

Lola Er LessardDepartment of Medicine (Neurology), The Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Canada.ORCID 0000-0002-3141-0227
Danielle K BourqueDivision of Metabolics and Newborn Screening, CHEO, University of Ottawa, Ottawa, Canada.ORCID 0000-0002-2244-6201
Pierre J BourqueDepartment of Medicine (Neurology), The Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Canada.
Hanns LochmüllerDepartment of Medicine (Neurology), The Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Canada.ORCID 0000-0003-2324-8001
Joaquin MachadoDepartment of Medicine (Neurology), The Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Canada.
Giulia F Del GobboChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Aren E MarshallChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.ORCID 0000-0003-2803-0941
Ian C SmithThe Ottawa Hospital Research Institute, Ottawa, Canada.ORCID 0000-0001-5269-1710
Care4Rare Canada ConsortiumChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Kym M BoycottChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
Jodi Warman-ChardonDepartment of Medicine (Neurology), The Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Canada.ORCID 0000-0002-0187-2199
Ari BreinerDepartment of Medicine (Neurology), The Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, Canada.ORCID 0000-0002-5225-3208

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BackgroundHereditary spastic paraplegia (HSP) is a heterogenous group of rare genetic disorders characterized by progressive corticospinal and dorsal spinal cord axonal degeneration manifesting as muscle weakness and spasticity of the lower extremities. Over 98% of solved HSP cases are caused by pathogenic variants in the nuclear DNA.CaseWe report a family carrying the m.9035T > C [p.(Leu170Pro)] pathogenic variant in the mitochondrial

Indexed as

Mitochondrial Proton-Translocating ATPasesSpastic Paraplegia, HereditaryAdultAgedAge of OnsetFemaleHumansMiddle AgedPedigreeMitochondrial Proton-Translocating ATPasesMT-ATP6 protein, humangait ataxiagenomeheteroplasmymaternal transmissionmitochondrial diseasesmuscle spasticitypolyneuropathy

Identifiers

PMID41222985
PMCPMC13434901

What Socratic holds

Textmetadata
LicenceCC BY-NC
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.