title: Brain anatomical substrates of mirror movements in Kallmann syndrome.
abstract: Among male patients affected by Kallmann syndrome, a genetically determined disease due to defective neural migration leading to hypogonadropic hypogonadism and hypo/anosmia, about 40% present the peculiar phenomenon of mirror movements, i.e. involuntary movements mirroring contralateral voluntary hand movements. Several pathogenic hypotheses have been proposed, but the ultimate neurological mechanisms are still elusive. The aim of the present study was to investigate brain anatomical substrates of mirror movements in Kallmann syndrome by means of a panel of quantitative MRI analyses. Forty-nine male Kallmann syndrome patients underwent brain MRI. The study protocol included 3D-T1-weighted gradient echo, fluid attenuated inversion recovery and diffusion tensor imaging. Voxel-based morphometry, sulcation, curvature and cortical thickness analyses and tract based spatial statistics were performed using SPM8, Freesurfer and FSL. All patients underwent a complete physical and neurological examination including the evaluation of mirror movements (according to the Woods and Teuber criteria). Kallmann syndrome patients presenting with mirror movements (16/49, 32%) displayed the following brain changes: 1) increased gray matter density in the depth of the left precentral sulcus behind the middle frontal gyrus; 2) decreased cortical thickness in the precentral gyrus bilaterally, in the depth of right precentral sulcus and in the posterior portion of the right superior frontal gyrus; and 3) decreased fractional anisotropy in the left hemisphere involving the temporal lobe and peritrigonal white matter. No differences were shown by cortical curvature and sulcation analyses. The composite array of brain changes observed in Kallmann syndrome patients with mirror movements likely represents the anatomical-structural underpinnings leading to the peculiar derangement of the complex circuitry committed to unilateral hand voluntary movements.
authors.affiliation: Neuroradiology, Dept. of Medicine and Surgery, University of Salerno, Italy. Electronic address: rmanara@unisa.it.
authors.forename: R
authors.initials: R
authors.lastname: Manara
authors.affiliation: Neuroradiology, Dept. of Scienze Biomediche Avanzate, Federico II University, Napoli, Italy. Electronic address: salvalaggio.a@gmail.com.
authors.forename: A
authors.initials: A
authors.lastname: Salvalaggio
authors.affiliation: IRCCS S. Camillo, Venezia, Italy. Electronic address: valentinacitton@gmail.com.
authors.forename: V
authors.initials: V
authors.lastname: Citton
authors.affiliation: Dept. of Clinical and Experimental Medicine and Surgery, Endocrinology and Medical Andrology Section, Second University of Napoli, Italy. Electronic address: dott.vincenzopalumbo@hotmail.it.
authors.forename: V
authors.initials: V
authors.lastname: Palumbo
authors.affiliation: Neuroradiology, Dept. of Scienze Biomediche Avanzate, Federico II University, Napoli, Italy. Electronic address: ariannaderrico@gmail.com.
authors.forename: A
authors.initials: A
authors.lastname: D'Errico
authors.affiliation: Neuroradiology, Dept. of Scienze Biomediche Avanzate, Federico II University, Napoli, Italy. Electronic address: andrea.elefante@unina.it.
authors.forename: A
authors.initials: A
authors.lastname: Elefante
authors.affiliation: Neurology, Dept. of Neurosciences, University of Padova, Italy. Electronic address: chiara.briani@unipd.it.
authors.forename: C
authors.initials: C
authors.lastname: Briani
authors.affiliation: Ent. Section, Dept. of Neurosciences, "Federico II" University, Napoli, Italy; Dept. of Molecular and Cellular Biology and Pathology, "Federico II" University, Napoli, Italy. Electronic address: elenacantone@libero.it.
authors.forename: E
authors.initials: E
authors.lastname: Cantone
authors.affiliation: Otolaryngology Section, Dept. of Neurosciences, University of Padova, Italy. Electronic address: giancarlo.ottaviano@unipd.it.
authors.forename: G
authors.initials: G
authors.lastname: Ottaviano
authors.affiliation: Neurology, Dept. of Medicine and Surgery, University of Salerno, Italy. Electronic address: mpellecchia@unisa.it.
authors.forename: M T
authors.initials: MT
authors.lastname: Pellecchia
authors.affiliation: UOS di Endocrinolgia Pediatrica e Adolescentologia, D.A.I.S. per la Salute della Donna e del Bambino, Azienda Ospedaliera - University of Padova, Italy. Electronic address: greggio@pediatria.unipd.it.
authors.forename: N A
authors.initials: NA
authors.lastname: Greggio
authors.affiliation: Neuroradiology, Dept. of Scienze Biomediche Avanzate, Federico II University, Napoli, Italy. Electronic address: luca.weis@ospedalesancamillo.net.
authors.forename: L
authors.initials: L
authors.lastname: Weis
authors.affiliation: Medicanova, Diagnostic Center, Battipaglia (SA), Italy. Electronic address: g.dagosto@istitutodam.it.
authors.forename: G
authors.initials: G
authors.lastname: D'Agosto
authors.affiliation: Clinica Medica III, Dept. of Medicine (DIMED), University of Padova, Italy. Electronic address: marco.rossato@unipd.it.
authors.forename: M
authors.initials: M
authors.lastname: Rossato
authors.affiliation: Clinica Medica III, Dept. of Medicine (DIMED), University of Padova, Italy. Electronic address: eugedicarlo@tiscali.it.
authors.forename: E
authors.initials: E
authors.lastname: De Carlo
authors.affiliation: Medicanova, Diagnostic Center, Battipaglia (SA), Italy. Electronic address: elvinapoli@libero.it.
authors.forename: E
authors.initials: E
authors.lastname: Napoli
authors.affiliation: Child and Adolescent Neuropsychiatry, University of Salerno, Italy. Electronic address: gcoppola@unisa.it.
authors.forename: G
authors.initials: G
authors.lastname: Coppola
authors.affiliation: Neuroradiology, Dept. of Medicine and Surgery, University of Salerno, Italy. Electronic address: fdisalle@unisa.it.
authors.forename: F
authors.initials: F
authors.lastname: Di Salle
authors.affiliation: Neuroradiology, Dept. of Scienze Biomediche Avanzate, Federico II University, Napoli, Italy. Electronic address: brunetti@unina.it.
authors.forename: A
authors.initials: A
authors.lastname: Brunetti
authors.affiliation: Unità di Endocrinologia, Dept. of Medicine (DIMED), University of Padova, Italy. Electronic address: guglielmo.bonanni@unipd.it.
authors.forename: G
authors.initials: G
authors.lastname: Bonanni
authors.affiliation: Dept. of Clinical and Experimental Medicine and Surgery, Endocrinology and Medical Andrology Section, Second University of Napoli, Italy. Electronic address: antonioagostino.sinisi@unina2.it.
authors.forename: A A
authors.initials: AA
authors.lastname: Sinisi
authors.affiliation: Psychiatry, Dept. of Neurosciences, University of Padova, Italy. Electronic address: angela.favaro@unipd.it.
authors.forename: A
authors.initials: A
authors.lastname: Favaro
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology* / Q000503:physiopathology*; D002540:Cerebral Cortex / Q000473:pathology / Q000503:physiopathology; D056324:Diffusion Tensor Imaging; D005917:Globus Pallidus / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D007091:Image Processing, Computer-Assisted; D017436:Kallmann Syndrome / Q000473:pathology* / Q000503:physiopathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009044:Motor Cortex / Q000473:pathology / Q000503:physiopathology; D011597:Psychomotor Performance / Q000502:physiology; D011712:Pyramidal Tracts / Q000473:pathology / Q000503:physiopathology; D055815:Young Adult
keywords: Brain; Kallmann syndrome; MRI; Mirror movements; Motor cortex