title: Early-onset progressive spastic paraplegia caused by a novel TUBB4A mutation: brain MRI and FDG-PET findings.
authors.affiliation: Fondazione IRCCS Istituto Neurologico "C. Besta", Via Celoria 11, 20133, Milan, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Sagnelli
authors.affiliation: Fondazione IRCCS Istituto Neurologico "C. Besta", Via Celoria 11, 20133, Milan, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Magri
authors.affiliation: Fondazione IRCCS Istituto Neurologico "C. Besta", Via Celoria 11, 20133, Milan, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Farina
authors.affiliation: Fondazione IRCCS Istituto Neurologico "C. Besta", Via Celoria 11, 20133, Milan, Italy.
authors.forename: Luisa
authors.initials: L
authors.lastname: Chiapparini
authors.affiliation: Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, Via Sforza 28, 20122, Milan, Italy.
authors.forename: Giorgio
authors.initials: G
authors.lastname: Marotta
authors.affiliation: Fondazione IRCCS Istituto Neurologico "C. Besta", Via Celoria 11, 20133, Milan, Italy.
authors.forename: Davide
authors.initials: D
authors.lastname: Tonduti
authors.affiliation: Fondazione IRCCS Istituto Neurologico "C. Besta", Via Celoria 11, 20133, Milan, Italy.
authors.forename: Monica
authors.initials: M
authors.lastname: Consonni
authors.affiliation: Fondazione IRCCS Istituto Neurologico "C. Besta", Via Celoria 11, 20133, Milan, Italy.
authors.forename: Graziana Maria
authors.initials: GM
authors.lastname: Scigliuolo
authors.affiliation: Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, Via Sforza 28, 20122, Milan, Italy.
authors.forename: Riccardo
authors.initials: R
authors.lastname: Benti
authors.affiliation: Fondazione IRCCS Istituto Neurologico "C. Besta", Via Celoria 11, 20133, Milan, Italy.
authors.forename: Davide
authors.initials: D
authors.lastname: Pareyson
authors.affiliation: Fondazione IRCCS Istituto Neurologico "C. Besta", Via Celoria 11, 20133, Milan, Italy.
authors.forename: Franco
authors.initials: F
authors.lastname: Taroni
authors.affiliation: Fondazione IRCCS Istituto Neurologico "C. Besta", Via Celoria 11, 20133, Milan, Italy. ettore.salsano@istituto-besta.it.
authors.forename: Ettore
authors.initials: E
authors.lastname: Salsano
authors.affiliation: Fondazione IRCCS Istituto Neurologico "C. Besta", Via Celoria 11, 20133, Milan, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Di Bella
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging*; D019788:Fluorodeoxyglucose F18; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics*; D049268:Positron-Emission Tomography; D015419:Spastic Paraplegia, Hereditary / Q000000981:diagnostic imaging* / Q000235:genetics*; D014404:Tubulin / Q000235:genetics*; D055815:Young Adult
chemical_list: C582076:TUBB4A protein, human; D014404:Tubulin; D019788:Fluorodeoxyglucose F18
references.citation: Neurology. 2007 Jul 10;69(2):166-71
references.pmid: 17620549
references.citation: Radiology. 2009 Jul;252(1):165-72
references.pmid: 19561255
references.citation: Brain. 2014 Sep;137(Pt 9):2408-22
references.pmid: 24871646
references.citation: Brain. 2014 Jul;137(Pt 7):1921-30
references.pmid: 24785942
references.citation: Brain. 2015 Feb;138(Pt 2):e327
references.pmid: 25168210
references.citation: Neurology. 2014 Sep 2;83(10):898-902
references.pmid: 25085639
references.citation: Neuropathol Appl Neurobiol. 2016 Apr;42(3):220-41
references.pmid: 25870938
references.citation: Mov Disord. 2015 May;30(6):854-8
references.pmid: 25772097
references.citation: Ann Neurol. 2013 Apr;73(4):546-53
references.pmid: 23424103
references.citation: Neurology. 2014 Jun 17;82(24):2230-7
references.pmid: 24850488