Posterior cortical atrophy as an extreme phenotype of GRN mutations

Paola Caroppo, Catherine Belin, David Grabli, Didier Maillet, Anne De Septenville, Raffaella Migliaccio, Fabienne Clot, Foudil Lamari, Agnès Camuzat, Alexis Brice, Bruno Dubois, Isabelle Le Ber

Research output: Contribution to journalArticlepeer-review

Abstract

IMPORTANCE Posterior cortical atrophy (PCA) is characterized by progressive visuoperceptual and visuospatial deficits and commonly considered to be an atypical variant of Alzheimer disease. Mutations of the GRN gene are responsible for a large phenotypic spectrum, but, to our knowledge, the association of PCA with GRN mutations has never been described.OBSERVATIONS We studied a patient presenting with insidious impairment of basic visuoperceptual skills and apperceptive visual agnosia with predominant posterior atrophy corresponding to a visual/ventral variant of PCA. A heterozygous p.Arg110(c.328C>T) GRN mutation was identified in this patient.CONCLUSIONS AND RELEVANCE This study extends the clinical spectrum of GRN mutations that may be responsible for a PCA phenotype. The GRN phenotypes overlap other degenerative dementias and highlight the limits of actual nosologic boundaries in dementias. The GRN gene should be analyzed in patients with PCA, particularly when the damage progresses to anterior cerebral regions and a family history of dementia is present.

Original languageEnglish
Pages (from-to)224-228
Number of pages5
JournalJAMA Neurology
Volume72
Issue number2
DOIs
Publication statusPublished - Feb 1 2015

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology
  • Medicine(all)

Fingerprint

Dive into the research topics of 'Posterior cortical atrophy as an extreme phenotype of GRN mutations'. Together they form a unique fingerprint.

Cite this