Mapping the progression of progranulin-associated frontotemporal lobar degeneration.

ABSTRACT:

Background

A 55-year-old woman was followed over a 13-year period as part of a longitudinal study of people at risk for familial dementia. She was a member of a family with an autosomal dominant familial dementia that fulfilled consensus criteria for frontotemporal lobar degeneration. The patient was initially asymptomatic but developed progressive behavioral and cognitive decline characterized by apathy, impaired emotion recognition, mixed aphasia and parietal lobe dysfunction.

Investigations

Clinical assessments, neuropsychometry, volumetric brain MRI, and genetic mutation screening.

Diagnosis

Progranulin-associated frontotemporal lobar degeneration.

Management

Explanation of the patient's condition and genetic counseling for her family.

SUBMITTER: Rohrer JD 

PROVIDER: S-EPMC2567307 | biostudies-literature | 2008 Aug

REPOSITORIES: biostudies-literature