Brain 18fluorodeoxyglucose-positron emission tomography changes in amyotrophic lateral sclerosis with TARDBP mutations

Introduction

Amyotrophic lateral sclerosis (ALS) is a motor neuron degenerative disorder, causing death within 2–5 years from onset. In 2008, mutations of TARDBP gene, encoding for TDP-43, were identified as cause of familial ALS and sporadic ALS.1 The cytoplasmic inclusions of hyperphosphorylated TDP-43 within neurons and glia in the motor cortex is the neuropathological hallmark in ~95% of ALS cases, with the exception of those with SOD1 and FUS mutations.2 In a population-based study, the presence of TARDBP mutations was associated with an increased frequency of a predominantly upper motor neuron (UMN) phenotype.3 Currently, neuroimaging studies evaluating in vivo the extent of the neurodegenerative process in patients with TARDBP mutations (TARDBP-ALS) are limited, highlighting frontotemporal changes in cases with cognitive-behavioural impairment.4

We aimed to assess the brain metabolic changes associated with TARDBP-ALS, performing brain 18fluorodeoxyglucose positron emission tomography (18F-FDG-PET).

Materials and methodsParticipants

We…

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