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.