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Posterior cortical atrophy as an extreme phenotype of GRN mutations
Paola Caroppo1, Catherine Belin2, David Grabli1
1Sorbonne Universités, Université Pierre et Marie Curie Université Paris 06, Unité Mixte de Recherche (UMR) S 1127, Institut du Cerveau et de la Moelle Épinière (ICM), Paris, France2Institut National de la Santé et de la Recherche Médicale, U 1127, Paris.
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.
