Objective: To examine the relationship between progranulin gene mutation and apraxic agraphia.
Design: Case report.
Setting: Tertiary care medical center.
Patient: A 49-year-old right-handed woman who presented with apraxic agraphia that progressed into the corticobasal syndrome.
Results: This woman had no family history of neurodegenerative disease. Magnetic resonance imaging and fluorodeoxyglucose positron emission tomographic scans of her head revealed significant asymmetric frontoparietal abnormalities, in keeping with the clinical diagnosis of corticobasal syndrome. Progranulin gene sequencing identified a 4-base pair deletion.
Conclusions: Patients presenting with early apraxic agraphia, a progressive disease course, and asymmetric frontoparietal abnormalities on brain scans should be considered for progranulin gene testing despite negative family history.