Mutations in the TARDBP gene are a rare cause of genetic motor neuron disease (MND). Morphologic MRI characteristics of MND patients carrying this mutation have been poorly described. Our objective was to investigate distinctive clinical and MRI features of a relatively large sample of MND patients carrying TARDBP mutations.

Profiling morphologic MRI features of motor neuron disease caused by TARDBP mutations

Spinelli, Edoardo Gioele;Ghirelli, Alma;Castelnovo, Veronica;Filippi, Massimo;Agosta, Federica
2022

Abstract

Mutations in the TARDBP gene are a rare cause of genetic motor neuron disease (MND). Morphologic MRI characteristics of MND patients carrying this mutation have been poorly described. Our objective was to investigate distinctive clinical and MRI features of a relatively large sample of MND patients carrying TARDBP mutations.
amyotrophic lateral sclerosis (ALS)
magnetic resonance imaging (MRI)
motor neuron disease (MND)
transactive response (TAR) DNA binding protein 43 (TARDBP)
voxel-based morphometry (VBM)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.11768/131211
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