Evidence map›Paper›PMID 38405699›Full record

ArticlemedRxiv : the preprint server for health sciences2024

Neuroradiological findings in GAA-

Shihan Chen, Catherine Ashton, Rawan Sakalla, Guillemette Clement, Sophie Planel, Céline Bonnet, Phillipa Lamont, Karthik Kulanthaivelu, Atchayaram Nalini, Henry Houlden and 17 more

Open access · greenAbstract readPreprint
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2024. 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, 9 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

27 authors at 12 institutions in 9 countries.

Shihan ChenDepartment of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, QC, Canada.
Catherine AshtonDepartment of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, QC, Canada.
Rawan SakallaDepartment of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, QC, Canada.
Guillemette ClementService de Neurologie, CHRU de Nancy, France.
Sophie PlanelService de Neurologie, CHRU de Nancy, France.
Céline BonnetService de Neurologie, CHRU de Nancy, France.
Phillipa LamontDepartment of Neurology, Royal Perth Hospital, Perth, Western Australia.
Karthik KulanthaiveluDepartment of Neuro Imaging and Interventional Radiology, National Institute of Mental Health and Neurosciences, Bengaluru, India.ORCID 0000-0002-1585-8769
Atchayaram NaliniDepartment of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, India.
Henry HouldenDepartment of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, London, UK.ORCID 0000-0002-2866-7777
Antoine DuquetteDepartment of Neurosciences, Faculty of Medicine, Université de Montréal; Centre de Recherche du Centre Hospitalier de l'Université de Montréal (CRCHUM), Montreal, QC, Canada.ORCID 0000-0002-8313-4068
Marie-Josée DicaireDepartment of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, QC, Canada.
Pablo Iruzubieta AgudoDepartment of Neurology, University Hospital of Donostia, Biogipuzkoa Health Research Institute, San Sebastian, Spain.
Javier Ruiz MartinezDepartment of Neurology, University Hospital of Donostia, Biogipuzkoa Health Research Institute, San Sebastian, Spain.
Enrique Marco de LucasDepartment of Radiology, University of Cantabria, Spain.
Rodrigo Sutil BerjonDepartment of Radiology, University of Cantabria, Spain.
Jon Infante CeberioDepartment of Medicine and Psychiatry, University of Cantabria, Spain.
Elisabetta IndelicatoDepartment of Neurology, Medical University of Innsbruck, Austria.ORCID 0000-0003-0217-8630
Sylvia BoeschDepartment of Neurology, Medical University of Innsbruck, Austria.
Matthis SynofzikDivision Translational Genomics of Neurodegenerative Diseases, Center for Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Germany.ORCID 0000-0002-2280-7273
Benjamin BenderDepartment of Diagnostic and Interventional Neuroradiology, University of Tübingen, Germany.
Matt C DanziDepartment of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.
Stephan ZuchnerDepartment of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.
David PellerinDepartment of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, QC, Canada.
Bernard BraisDepartment of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, QC, Canada.
Mathilde RenaudService de Neurologie, CHRU de Nancy, France.
Roberta La PianaDepartment of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, QC, Canada.ORCID 0000-0002-4207-5065
Montreal Neurological Institute and Hospital · CACentre Hospitalier Régional et Universitaire de Nancy · FRUniversidad de Cantabria · ESBiogipuzkoa Health Research Institute · ESInnsbruck Medical University · ATNational Institute of Mental Health and Neurosciences · INUniversity of Miami · USCentre Hospitalier de l’Université de Montréal · CAGerman Center for Neurodegenerative Diseases · DENational Hospital for Neurology and Neurosurgery · GBRoyal Perth Hospital · AUUniversity of Tübingen · DE

Funding

GENOME STUDIES IN HEREDITARY SPASTIC PARAPLEGIA - beyond the exomeR01NS072248 · NINDS · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI Stephan Zuchner · 2011 to 2026
$9.2M
Creating an advanced multi-ancestral resource and tools for short tandem repeat analysis in the AOURP researcher workbenchR21HG013397 · NHGRI · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI DANZI, MATTHEW CHRISTOPHER, ZUCHNER, STEPHAN · 2023 to 2023
$422k
NHGRI NIH HHS R21 HG013397NINDS NIH HHS R01 NS072248
6 · The paper itself

Abstract

Background: GAA- Methods: We performed a retrospective review of the brain MRIs of 35 patients (median age at MRI 63 years; range 28-88 years) from Quebec (n=27), Nancy (n=3), Perth (n=3) and Bengaluru (n=2) to assess the presence of atrophy in vermis, cerebellar hemispheres, brainstem, cerebral hemispheres, and corpus callosum, as well as white matter involvement. Following the identification of the superior cerebellar peduncles (SCPs) involvement, we verified its presence in 54 GAA- Results: Cerebellar atrophy was documented in 33 subjects (94.3%). We observed SCP involvement in 22 subjects (62.8%) and confirmed this finding in 30/54 (55.6%) subjects from the validation cohorts. Cerebellar segmentation showed reduced mean volumes of lobules X and IV in the 5 affected individuals. Conclusions: Cerebellar atrophy is a key feature of GAA-

Identifiers

PMID38405699
PMCPMC10889027
OpenAlexW4391922065

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.