A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia.

ABSTRACT:

Aims

Frontotemporal lobar degeneration (FTLD) is a progressive neurodegenerative disease and is the second most common form of young onset dementia after Alzheimer's disease (AD). An autosomal dominant pattern of inheritance is present in around 25-50% of FTLD cases indicating a strong genetic component. Major pathogenic mutations of FTLD have been demonstrated independently in the progranulin (GRN) gene and the C9orf72 hexanucleotide expansion repeat. In this study we present a family that have been identified as carrying both a GRN Cys31fs mutation and the C9orf72 hexanucleotide expansion repeat.

Methods

In the present study we describe the clinical and genetic details of family members and pathological features of two family members that have come to post-mortem.

Resul

SUBMITTER: Lashley T 

PROVIDER: S-EPMC4260146 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature