Evidence map›Paper›PMID 37578488›Full record

ArticleJournal of neurology2023

White matter abnormalities in 15 subjects with SPG76.

Abdulrahman Alkhalifa, Shihan Chen, Zehra Isik Hasiloglu, Massimiliano Filosto, Elisa Cali, Henry Houlden, Paulo Sgobbi de Souza, Afagh Alavi, Cyril Goizet, Giovanni Stevanin and 12 more

Abstract read
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In one paragraph

Article in Journal of neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.1field-weighted citation impact, top 53% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. Biomarkers in Hereditary Spastic Paraplegias.International journal of molecular sciences · 2025
    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

22 authors at 12 institutions in 8 countries.

Abdulrahman AlkhalifaDepartment of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, 3801 rue University, Montreal, QC, H3A 2B4, Canada.
Shihan ChenDepartment of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, 3801 rue University, Montreal, QC, H3A 2B4, Canada.
Zehra Isik HasilogluDepartment of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, 3801 rue University, Montreal, QC, H3A 2B4, Canada.
Massimiliano FilostoDepartment of Clinical and Experimental Sciences, University of Brescia, NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy.
Elisa CaliDepartment of Neuromuscular Disease, University College London; The National Hospital for Neurology and Neurosurgery, London, UK.
Henry HouldenDepartment of Neuromuscular Disease, University College London; The National Hospital for Neurology and Neurosurgery, London, UK.
Paulo Sgobbi de SouzaDepartment of Neurology and Neurosurgery, Division of Neuromuscular Diseases, Universidade Federal de São Paulo, Sao Paulo, Brazil.
Afagh AlaviUniversity of Social Welfare and Rehabilitation Sciences, Genetics Research Center, Tehran, Iran.
Cyril GoizetNRGEN Team, Univ. Bordeaux, CNRS, INCIA, UMR 5287, EPHE, 33000, Bordeaux, France.
Giovanni StevaninCentre de Référence Maladies Rares Neurogénétique, Service de Génétique Médicale, Bordeaux University Hospital (CHU Bordeaux), Bordeaux, France.
Frederic TaitheService de Neurologie, Hôpital Gabriel Montpied, CHU de Clermont-Ferrand, Clermont-Ferrand, France.
Francesco NicitaGenetics and Rare Diseases Research Division, Unit of Neuromuscular and Neurodegenerative Diseases, Bambino Gesù Hospital, IRCCS, Rome, Italy.
Gessica VascoDepartment of Neurosciences, Unit of Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Stefano TozzaDepartment of Neuroscience and Reproductive and Odontostomatological Sciences, University of Naples Federico II, Naples, Italy.
Sirio CocozzaDepartment of Advanced Biomedical Sciences, University of Naples Federico II, Naples, Italy.
Nicola CarboniDepartment of Neurology, San Francesco Hospital, Nuoro, Italy.
Andrea FigusDepartment of Radiology, San Francesco Hospital, Nuoro, Italy.
Jianjun WuNational Center for Neurological Disorders and National Research Center for Aging and Medicine, Huashan Hospital, Fudan University, Shanghai, China.
A Nazli BasakTranslational Medicine Research Center-NDAL, School of Medicine, Koc University, Istanbul, Turkey.
Bernard BraisDepartment of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, 3801 rue University, Montreal, QC, H3A 2B4, Canada.
Guy RouleauDepartment of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, 3801 rue University, Montreal, QC, H3A 2B4, Canada.
Roberta La PianaDepartment of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, 3801 rue University, Montreal, QC, H3A 2B4, Canada. roberta.lapiana@mcgill.ca.ORCID http://orcid.org/0000-0002-4207-5065
Montreal Neurological Institute and Hospital · CABambino Gesù Children's Hospital · ITNational Hospital for Neurology and Neurosurgery · GBUniversity of Naples Federico II · ITCentre Hospitalier Universitaire de Bordeaux · FRCentre Hospitalier Universitaire de Clermont-Ferrand · FRCentre National de la Recherche Scientifique · FRFudan University · CNKoç University · TRUniversidade Federal de São Paulo · BRUniversity of Brescia · ITUniversity of Social Welfare and Rehabilitation Sciences · IR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND AND

objectivesHereditary spastic paraplegias (HSPs) are heterogenous genetic disorders characterized by progressive pyramidal tract involvement. SPG76 is a recently identified form of HSP, caused by biallelic calpain-1 (CAPN1) variants. The most frequently described MRI abnormality in SPG76 is mild cerebellar atrophy and non-specific white matter abnormalities were reported in only one case. Following the identification of prominent white matter abnormalities in a subject with CAPN1 variants, which delayed the diagnosis, we aimed to verify the presence of MRI patterns of white matter involvement specific to this HSP.

methodsWe performed a retrospective radiological qualitative analysis of 15 subjects with SPG76 (4 previously unreported) initially screened for white matter involvement. Moreover, we performed quantitative analyses in our proband with available longitudinal studies.

resultsWe observed bilateral, periventricular white matter involvement in 12 subjects (80%), associated with multifocal subcortical abnormalities in 5 of them (33.3%). Three subjects (20%) presented only multifocal subcortical involvement. Longitudinal quantitative analyses of our proband revealed increase in multifocal white matter lesion count and increased area of periventricular white matter involvement over time. DISCUSSION: SPG76 should be added to the list of HSPs with associated white matter abnormalities. We identified periventricular white matter involvement in subjects with SPG76, variably associated with multifocal subcortical white matter abnormalities. These findings, in the presence of progressive spastic paraparesis, can mislead the diagnostic process towards an acquired white matter disorder.

Indexed as

Paraparesis, SpasticSpastic Paraplegia, HereditaryWhite MatterHumansMagnetic Resonance ImagingRetrospective StudiesCAPN1Hereditary spastic paraplegiaSPG76White matter abnormalities

Identifiers

PMID37578488
OpenAlexW4385798659

What OpenQuestion holds

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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.