Amyotrophic lateral sclerosis-frontotemporal lobar dementia in 3 families with p.Ala382Thr TARDBP mutations.

ABSTRACT:

Background

TAR DNA-binding protein 43, encoded by the TARDBP gene, has been identified as the major pathological protein of frontotemporal lobar dementia (FTLD) with or without amyotrophic lateral sclerosis (ALS) and sporadic ALS. Subsequently, mutations in the TARDBP gene have been detected in 2% to 3% of patients with ALS (both familial and sporadic ALS). However, to our knowledge, there is only 1 description of 2 patients with FTLD and TARDBP gene mutations who later developed motor neuron disease.

Objective

To describe cognitive abnormalities in 3 Italian families with familial ALS and TARDBP gene mutations.

Design, setting, and participants

Genetic, neuropsychological, and neuroimaging analyses in 36 patients with familial non-superoxide dismutase 1 gene (SOD1) A

SUBMITTER: Chio A 

PROVIDER: S-EPMC3535689 | biostudies-literature | 2010 Aug

REPOSITORIES: biostudies-literature