Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1.

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Title: Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1.
Authors: Vaia Y; C.O.A.L.A. (Center for Diagnosis and Treatment of Leukodystrophies), Unit of Pediatric Neurology, V. Buzzi Children's Hospital, Milan, Italy.; Neuroscience Research Center, Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy., Mura E; C.O.A.L.A. (Center for Diagnosis and Treatment of Leukodystrophies), Unit of Pediatric Neurology, V. Buzzi Children's Hospital, Milan, Italy.; S.C. Neuropsichiatria Infantile e dell'Adolescenza, Ospedale Filippo del Ponte, Varese, Italy., Bruschi F; C.O.A.L.A. (Center for Diagnosis and Treatment of Leukodystrophies), Unit of Pediatric Neurology, V. Buzzi Children's Hospital, Milan, Italy.; Neuroscience Research Center, Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy., Zambrano S; Clinical Neurophysiology Unit, IRCCS E. Medea, Bosisio Parini, Italy., Brena M; Pediatric Dermatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Tadini G; Pediatric Dermatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Center for Inherited Cutaneous Diseases, University of Milan, Milan, Italy., Arrigoni F; C.O.A.L.A. (Center for Diagnosis and Treatment of Leukodystrophies), Unit of Pediatric Neurology, V. Buzzi Children's Hospital, Milan, Italy.; Unit of Pediatric Radiology and Neuroradiology, V. Buzzi Children's Hospital, Milan, Italy., Antonello CE; C.O.A.L.A. (Center for Diagnosis and Treatment of Leukodystrophies), Unit of Pediatric Neurology, V. Buzzi Children's Hospital, Milan, Italy.; Department of Pediatric Orthopedics, V. Buzzi Children's Hospital, Milan, Italy., Uggetti C; Unit of Neuroradiology, Department of Radiology, ASST Santi Paolo e Carlo, Milan, Italy., Parazzini C; C.O.A.L.A. (Center for Diagnosis and Treatment of Leukodystrophies), Unit of Pediatric Neurology, V. Buzzi Children's Hospital, Milan, Italy.; Unit of Pediatric Radiology and Neuroradiology, V. Buzzi Children's Hospital, Milan, Italy., Veggiotti P; Neuroscience Research Center, Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy.; Unit of Pediatric Neurology, V. Buzzi Children's Hospital, Milan, Italy., Tonduti D; C.O.A.L.A. (Center for Diagnosis and Treatment of Leukodystrophies), Unit of Pediatric Neurology, V. Buzzi Children's Hospital, Milan, Italy.; Neuroscience Research Center, Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy.
Source: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience [Int J Dev Neurosci] 2026 May; Vol. 86 (3), pp. e70137.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 8401784 Publication Model: Print Cited Medium: Internet ISSN: 1873-474X (Electronic) Linking ISSN: 07365748 NLM ISO Abbreviation: Int J Dev Neurosci Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1873-474X
DOI:10.1002/jdn.70137