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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
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  Data: Complicated Spastic Paraparesis: Study of a Patient With a De Novo Pathogenic Variant in ELOVL1.
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  Data: <searchLink fieldCode="AU" term="%22Vaia+Y%22">Vaia Y</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Mura+E%22">Mura E</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Bruschi+F%22">Bruschi F</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Zambrano+S%22">Zambrano S</searchLink>; Clinical Neurophysiology Unit, IRCCS E. Medea, Bosisio Parini, Italy.<br /><searchLink fieldCode="AU" term="%22Brena+M%22">Brena M</searchLink>; Pediatric Dermatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Tadini+G%22">Tadini G</searchLink>; Pediatric Dermatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Center for Inherited Cutaneous Diseases, University of Milan, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Arrigoni+F%22">Arrigoni F</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Antonello+CE%22">Antonello CE</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Uggetti+C%22">Uggetti C</searchLink>; Unit of Neuroradiology, Department of Radiology, ASST Santi Paolo e Carlo, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Parazzini+C%22">Parazzini C</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Veggiotti+P%22">Veggiotti P</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Tonduti+D%22">Tonduti D</searchLink>; 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.
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