Structural MRI Signatures in Genetic Presentations of the Frontotemporal Dementia/Motor Neuron Disease Spectrum
Edoardo Gioele Spinelli, Alma Ghirelli, Silvia Basaia, Camilla Cividini, Nilo Riva, Elisa Canu, Veronica Castelnovo, Teuta Domi, Giuseppe Magnani, Francesca Caso, Paola Caroppo, Sara Prioni, Giacomina Rossi, Lucio Tremolizzo, Ildebrando Appollonio, Vincenzo Silani, Paola Carrera, Massimo Filippi, Federica Agosta
Abstract
BACKGROUND AND OBJECTIVES: To assess cortical, subcortical, and cerebellar gray matter (GM) atrophy using MRI in patients with disorders of the frontotemporal lobar degeneration (FTLD) spectrum with known genetic mutations. METHODS: Sixty-six patients carrying FTLD-related mutations were enrolled, including 44 with pure motor neuron disease (MND) and 22 with frontotemporal dementia (FTD). Sixty-one patients with sporadic FTLD (sFTLD) matched for age, sex, and disease severity with genetic FTLD (gFTLD) were also included, as well as 52 healthy controls. A whole-brain voxel-based morphometry (VBM) analysis was performed. GM volumes of subcortical and cerebellar structures were obtained. RESULTS: mutation showed an inverse correlation with Frontal Behavioral Inventory scores. DISCUSSION: -related disorders, regardless of the clinical presentation within the FTLD spectrum.