Sporadic corticobasal syndrome with progranulin mutation presenting as progressive apraxic agraphia

Victoria Passov, Ralitza H. Gavrilova, Edythe Strand, Jane H. Cerhan, Keith A. Josephs

Research output: Contribution to journalArticle

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)376-380
Number of pages5
JournalArchives of neurology
Volume68
Issue number3
DOIs
StatePublished - Mar 1 2011

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ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology

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