Motor, cognitive and behavioural profiles of C9orf72 expansion-related amyotrophic lateral sclerosis.

ABSTRACT:

Introduction

Amyotrophic lateral sclerosis (ALS) individuals carrying the hexanucleotide repeat expansion (HRE) in the C9orf72 gene (C9Pos) have been described as presenting distinct features compared to the general ALS population (C9Neg). We aim to identify the phenotypic traits more closely associated with the HRE and analyse the role of the repeat length as a modifier factor.

Methods

We studied a cohort of 960 ALS patients (101 familial and 859 sporadic cases). Motor phenotype was determined using the MRC scale, the lower motor neuron score (LMNS) and the Penn upper motor neuron score (PUMNS). Neuropsychological profile was studied using the Italian version of the Edinburgh Cognitive and Behavioral ALS Screen (ECAS), the Frontal Behavioral Inventory (FBI), the Beck Depres

SUBMITTER: Colombo E 

PROVIDER: S-EPMC9886586 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature