title: Congenital-onset spastic paraplegia in a patient with TUBB4A mutation and mild hypomyelination.
authors.affiliation: Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Research Hospital, Rome, Italy; Child neurology division, Department of Pediatrics and Child Neuropsychiatry, Umberto I Hospital, Sapienza University, Rome, Italy. Electronic address: nicita.f@gmail.com.
authors.forename: Francesco
authors.initials: F
authors.lastname: Nicita
authors.affiliation: Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Research Hospital, Rome, Italy.
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.affiliation: Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Research Hospital, Rome, Italy.
authors.forename: Lorena
authors.initials: L
authors.lastname: Travaglini
authors.affiliation: MARlab (Movement Analysis and Robotics Laboratory), Department of Neuroscience and Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Italy.
authors.forename: Michelina
authors.initials: M
authors.lastname: Armando
authors.affiliation: Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesù Children's Research Hospital, Rome, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Aiello
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging*; D002648:Child; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000000981:diagnostic imaging / Q000235:genetics; D009154:Mutation; D009186:Myelin Sheath / Q000235:genetics; D015419:Spastic Paraplegia, Hereditary / Q000000981:diagnostic imaging* / Q000235:genetics*; D014404:Tubulin / Q000235:genetics*
chemical_list: C582076:TUBB4A protein, human; D014404:Tubulin
keywords: H-ABC; Hereditary spastic paraplegia; Hypomyelination; Leukodystrophy; TUBB4A