ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations.

ABSTRACT:

Background

In the isolated population of Sardinia, a Mediterranean island, ∼25% of ALS cases carry either a p.A382T mutation of the TARDBP gene or a GGGGCC hexanucleotide repeat expansion in the first intron of the C9ORF72 gene.

Objective

To describe the co-presence of two genetic mutations in two Sardinian ALS patients.

Methods

We identified two index ALS cases carrying both the p.A382T missense mutation of TARDBP gene and the hexanucleotide repeat expansion of C9ORF72 gene.

Results

The index case of Family A had bulbar ALS and frontemporal dementia (FTD) at 43. His father, who carried the hexanucleotide repeat expansion of C9ORF72 gene, had spinal ALS and FTD at 64 and his mother, who carried the TARDBP gene p.A382T missense mutation, had spinal ALS and FTD a

SUBMITTER: Chio A 

PROVIDER: S-EPMC4568835 | biostudies-literature | 2012 Jul

REPOSITORIES: biostudies-literature