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

ABSTRACT:

Objective

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.

Methods

Eleven MND patients carrying a TARDBP mutation were enrolled. Eleven patients with sporadic MND (sMND) and no genetic mutations were also selected and individually matched by age, sex, clinical presentation and disease severity, along with 22 healthy controls. Patients underwent clinical and cognitive evaluations, as well as 3D T1-weighted and diffusion tensor (DT) MRI on a 3 Tesla scanner. Gray matter (GM) atrophy

SUBMITTER: Spinelli EG 

PROVIDER: S-EPMC9334911 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature