White matter abnormalities in 15 subjects with SPG76
J Neurol. 2023-08-14; 270(12): 5784-5792
DOI: 10.1007/s00415-023-11918-5
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Alkhalifa A(1)(2), Chen S(1), Hasiloglu ZI(1), Filosto M(3), Cali E(4), Houlden H(4), Sgobbi de Souza P(5), Alavi A(6), Goizet C(7)(8), Stevanin G(8), Taithe F(9), Nicita F(10), Vasco G(11), Tozza S(12), Cocozza S(13), Carboni N(14), Figus A(15), Wu J(16)(17), Basak AN(18), Brais B(1)(19), Rouleau G(1)(19), La Piana R(20)(21)(22).
Author information:
(1)Department of Neurology and Neurosurgery, Montreal Neurological Institute,
McGill University, 3801 rue University, Montreal, QC, H3A 2B4, Canada.
(2)Bahrain Defence Force Royal Medical Services, Military Hospital, Riffa,
Bahrain.
(3)Department of Clinical and Experimental Sciences, University of Brescia,
NeMO-Brescia Clinical Center for Neuromuscular Diseases, Brescia, Italy.
(4)Department of Neuromuscular Disease, University College London; The National
Hospital for Neurology and Neurosurgery, London, UK.
(5)Department of Neurology and Neurosurgery, Division of Neuromuscular Diseases,
Universidade Federal de São Paulo, Sao Paulo, Brazil.
(6)University of Social Welfare and Rehabilitation Sciences, Genetics Research
Center, Tehran, Iran.
(7)NRGEN Team, Univ. Bordeaux, CNRS, INCIA, UMR 5287, EPHE, 33000, Bordeaux,
France.
(8)Centre de Référence Maladies Rares Neurogénétique, Service de Génétique
Médicale, Bordeaux University Hospital (CHU Bordeaux), Bordeaux, France.
(9)Service de Neurologie, Hôpital Gabriel Montpied, CHU de Clermont-Ferrand,
Clermont-Ferrand, France.
(10)Genetics and Rare Diseases Research Division, Unit of Neuromuscular and
Neurodegenerative Diseases, Bambino Gesù Hospital, IRCCS, Rome, Italy.
(11)Department of Neurosciences, Unit of Neurorehabilitation, Bambino Gesù
Children’s Hospital, IRCCS, Rome, Italy.
(12)Department of Neuroscience and Reproductive and Odontostomatological
Sciences, University of Naples Federico II, Naples, Italy.
(13)Department of Advanced Biomedical Sciences, University of Naples Federico
II, Naples, Italy.
(14)Department of Neurology, San Francesco Hospital, Nuoro, Italy.
(15)Department of Radiology, San Francesco Hospital, Nuoro, Italy.
(16)National Center for Neurological Disorders and National Research Center for
Aging and Medicine, Huashan Hospital, Fudan University, Shanghai, China.
(17)Department of Neurology, Huashan Hospital, Fudan University, Shanghai,
China.
(18)Translational Medicine Research Center-NDAL, School of Medicine, Koc
University, Istanbul, Turkey.
(19)The Neuro (Montreal Neurological Institute-Hospital), McGill University,
Montreal, Canada.
(20)Department of Neurology and Neurosurgery, Montreal Neurological Institute,
McGill University, 3801 rue University, Montreal, QC, H3A 2B4, Canada.
.
(21)The Neuro (Montreal Neurological Institute-Hospital), McGill University,
Montreal, Canada. .
(22)Department of Diagnostic Radiology, McGill University, Montreal, QC, Canada.
.
BACKGROUND AND OBJECTIVES: 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: 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: 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: 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.
© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany.
DOI: 10.1007/s00415-023-11918-5
PMID: 37578488 [Indexed for MEDLINE]