White matter abnormalities in 15 subjects with SPG76.

Humans White Matter / diagnostic imaging Retrospective Studies Spastic Paraplegia, Hereditary / diagnostic imaging Magnetic Resonance Imaging Paraparesis, Spastic
CAPN1 Hereditary spastic paraplegia SPG76 White matter abnormalities

Journal

Journal of neurology
ISSN: 1432-1459
Titre abrégé: J Neurol
Pays: Germany
ID NLM: 0423161

Informations de publication

Date de publication:
Dec 2023
Historique:
received: 22 06 2023
accepted: 30 07 2023
revised: 27 07 2023
medline: 9 11 2023
pubmed: 14 8 2023
entrez: 14 8 2023
Statut: ppublish

Résumé

Hereditary 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. We 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. We 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. 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.

Sections du résumé

BACKGROUND AND OBJECTIVES OBJECTIVE
Hereditary 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.
METHODS METHODS
We 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.
RESULTS RESULTS
We 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 CONCLUSIONS
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.

Identifiants

DOI: 10.1007/s00415-023-11918-5 PMID: 37578488
pubmed: 37578488
doi: 10.1007/s00415-023-11918-5
pii: 10.1007/s00415-023-11918-5
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

5784-5792

Informations de copyright

© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany.

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Auteurs

Abdulrahman Alkhalifa (A)

Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, 3801 rue University, Montreal, QC, H3A 2B4, Canada.
Bahrain Defence Force Royal Medical Services, Military Hospital, Riffa, Bahrain.

Shihan Chen (S)

Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, 3801 rue University, Montreal, QC, H3A 2B4, Canada.

Zehra Isik Hasiloglu (ZI)

Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, 3801 rue University, Montreal, QC, H3A 2B4, Canada.

Massimiliano Filosto (M)

Department of Clinical and Experimental Sciences, University of Brescia, NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy.

Elisa Cali (E)

Department of Neuromuscular Disease, University College London; The National Hospital for Neurology and Neurosurgery, London, UK.

Henry Houlden (H)

Department of Neuromuscular Disease, University College London; The National Hospital for Neurology and Neurosurgery, London, UK.

Paulo Sgobbi de Souza (P)

Department of Neurology and Neurosurgery, Division of Neuromuscular Diseases, Universidade Federal de São Paulo, Sao Paulo, Brazil.

Afagh Alavi (A)

University of Social Welfare and Rehabilitation Sciences, Genetics Research Center, Tehran, Iran.

Cyril Goizet (C)

NRGEN Team, Univ. Bordeaux, CNRS, INCIA, UMR 5287, EPHE, 33000, Bordeaux, France.
Centre de Référence Maladies Rares Neurogénétique, Service de Génétique Médicale, Bordeaux University Hospital (CHU Bordeaux), Bordeaux, France.

Giovanni Stevanin (G)

Centre de Référence Maladies Rares Neurogénétique, Service de Génétique Médicale, Bordeaux University Hospital (CHU Bordeaux), Bordeaux, France.

Frederic Taithe (F)

Service de Neurologie, Hôpital Gabriel Montpied, CHU de Clermont-Ferrand, Clermont-Ferrand, France.

Francesco Nicita (F)

Genetics and Rare Diseases Research Division, Unit of Neuromuscular and Neurodegenerative Diseases, Bambino Gesù Hospital, IRCCS, Rome, Italy.

Gessica Vasco (G)

Department of Neurosciences, Unit of Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Stefano Tozza (S)

Department of Neuroscience and Reproductive and Odontostomatological Sciences, University of Naples Federico II, Naples, Italy.

Sirio Cocozza (S)

Department of Advanced Biomedical Sciences, University of Naples Federico II, Naples, Italy.

Nicola Carboni (N)

Department of Neurology, San Francesco Hospital, Nuoro, Italy.

Andrea Figus (A)

Department of Radiology, San Francesco Hospital, Nuoro, Italy.

Jianjun Wu (J)

National Center for Neurological Disorders and National Research Center for Aging and Medicine, Huashan Hospital, Fudan University, Shanghai, China.
Department of Neurology, Huashan Hospital, Fudan University, Shanghai, China.

A Nazli Basak (AN)

Translational Medicine Research Center-NDAL, School of Medicine, Koc University, Istanbul, Turkey.

Bernard Brais (B)

Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, 3801 rue University, Montreal, QC, H3A 2B4, Canada.
The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Canada.

Guy Rouleau (G)

Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, 3801 rue University, Montreal, QC, H3A 2B4, Canada.
The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Canada.

Roberta La Piana (R)

Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, 3801 rue University, Montreal, QC, H3A 2B4, Canada. roberta.lapiana@mcgill.ca.
The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Canada. roberta.lapiana@mcgill.ca.
Department of Diagnostic Radiology, McGill University, Montreal, QC, Canada. roberta.lapiana@mcgill.ca.
ORCID: 0000-0002-4207-5065

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › White matter abnormalities in 15 subjects with SPG76.
questionsmedicales.fr › Système nerveux › Système nerveux central › Moelle spinale › Substance blanche › White matter abnormalities in 15 subjects with SPG76.
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › Études rétrospectives › White matter abnormalities in 15 subjects with SPG76.
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies neurodégénératives héréditaires › Neuropathie héréditaire motrice et sensitive › Paraplégie spasmodique héréditaire › White matter abnormalities in 15 subjects with SPG76.
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Imagerie diagnostique › Tomographie › Imagerie par résonance magnétique › White matter abnormalities in 15 subjects with SPG76.
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Parésie › Paraparésie › Paraparésie spastique › White matter abnormalities in 15 subjects with SPG76.