Development and validation of pedigree classification criteria for frontotemporal lobar degeneration.

ABSTRACT:

Importance

A significant portion of frontotemporal lobar degeneration (FTLD) is due to inherited gene mutations, and we are unaware of a large sequential series that includes a recently discovered inherited cause of FTLD. There is also great need to develop clinical tools and approaches that will assist clinicians in the identification and counseling of patients with FTLD and their families regarding the likelihood of an identifiable genetic cause.

Objectives

To ascertain the frequency of inherited FTLD and develop validated pedigree classification criteria for FTLD that provide a standardized means to evaluate pedigree information and insight into the likelihood of mutation-positive genetic test results for C9orf72, MAPT, and GRN.

Design

Information about pedigrees a

SUBMITTER: Wood EM 

PROVIDER: S-EPMC3906581 | biostudies-literature | 2013 Nov

REPOSITORIES: biostudies-literature