Oct 2, 2013

Development and validation of pedigree classification criteria for frontotemporal lobar degeneration

JAMA Neurology
Elisabeth M WoodMurray Grossman

Abstract

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. 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. Information about pedigrees and DNA was collected from 306 serially assessed patients with a clinical diagnosis of FTLD. This information included gene test results for C9orf72, MAPT, and GRN. Pedigree classification criteria were developed based on a literature review of FTLD genetics and pedigree tools and then refined by reviewing mutation-positive and -negative pedigrees to determine differentiating characteristics. Academic medical center. Patients with FTLD. Familial risk. The rate of C9orf72, MAPT, or GRN mutation-...Continue Reading

Mentioned in this Paper

TARDBP gene
C9orf72 protein, human
Brain Diseases
Abnormal Degeneration
Primary Progressive Aphasia (Disorder)
Progressive Supranuclear Palsy
Acropectoral Syndrome
Pathogenic Organism
Genetic Screening Method
Nerve Degeneration

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