title: Progression of brain atrophy in spinocerebellar ataxia type 2: a longitudinal tensor-based morphometry study.
abstract: Spinocerebellar ataxia type 2 (SCA2) is the second most frequent autosomal dominant inherited ataxia worldwide. We investigated the capability of magnetic resonance imaging (MRI) to track in vivo progression of brain atrophy in SCA2 by examining twice 10 SCA2 patients (mean interval 3.6 years) and 16 age- and gender-matched healthy controls (mean interval 3.3 years) on the same 1.5 T MRI scanner. We used T1-weighted images and tensor-based morphometry (TBM) to investigate volume changes and the Inherited Ataxia Clinical Rating Scale to assess the clinical deficit. With respect to controls, SCA2 patients showed significant higher atrophy rates in the midbrain, including substantia nigra, basis pontis, middle cerebellar peduncles and posterior medulla corresponding to the gracilis and cuneatus tracts and nuclei, cerebellar white matter (WM) and cortical gray matter (GM) in the inferior portions of the cerebellar hemisphers. No differences in WM or GM volume loss were observed in the supratentorial compartment. TBM findings did not correlate with modifications of the neurological deficit. In conclusion, MRI volumetry using TBM is capable of demonstrating the progression of pontocerebellar atrophy in SCA2, supporting a possible role of MRI as biomarker in future trials.
authors.affiliation: Quantitative and Functional Neuroradiology Research Program at Meyer Children Hospital and Careggi General Hospital, Florence, Italy ; "Mario Serio" Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy.
authors.forename: Mario
authors.initials: M
authors.lastname: Mascalchi
authors.affiliation: "Mario Serio" Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy ; Department of Electrical, Electronic, and Information Engineering "Guglielmo Marconi", University of Bologna, Cesena, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Diciotti
authors.affiliation: Unit of Medical Physics, Pisa University Hospital "Azienda Ospedaliero-Universitaria Pisana", Pisa, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Giannelli
authors.affiliation: Neuroradiology Unit, Careggi General Hospital, Florence, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Ginestroni
authors.affiliation: IRCSS SDN Foundation, Naples, Italy ; University of Naples Parthenope, Naples, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Soricelli
authors.affiliation: IRCSS SDN Foundation, Naples, Italy.
authors.forename: Emanuele
authors.initials: E
authors.lastname: Nicolai
authors.affiliation: IRCSS SDN Foundation, Naples, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Aiello
authors.affiliation: Unit of Radiology, Versilia Hospital, Azienda USL 12 Viareggio, Lido di Camaiore (Lu), Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Tessa
authors.affiliation: Molecular Medicine Unit, Le Scotte University Hospital, Siena, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Galli
authors.affiliation: Department of Medicine, Surgery and Neuroscience, University of Siena, Siena, Italy.
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Dotti
authors.affiliation: Department NEUROFARBA, University of Florence, Florence, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Piacentini
authors.affiliation: Department of Neurological Sciences, University of Naples Federico II, Naples, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Salvatore
authors.affiliation: Medical Physics Section, Department of Biomedicine and Prevention, University of Rome "Tor Vergata", Rome, Italy ; Department of Radiology, Athinoula A. Martinos Center for Biomedical Imaging, Boston, Massachusetts, United States of America ; Harvard Medical School, Boston, Massachusetts, United States of America.
authors.forename: Nicola
authors.initials: N
authors.lastname: Toschi
mesh_terms: D000328:Adult; D000368:Aged; D001284:Atrophy / Q000473:pathology*; D016022:Case-Control Studies; D018450:Disease Progression; D005260:Female; D006801:Humans; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008636:Mesencephalon / Q000473:pathology*; D008875:Middle Aged; D020754:Spinocerebellar Ataxias / Q000473:pathology*