Sorbonne 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.
Mémoire et Maladie Neurodégénérative, Service de Neurologie, Unité d'Explorations Fonctionnelles, Assistance Publique-Hôpitaux de Paris (AP-HP), Centre Hospitalier Universitaire Avicenne, Bobigny, France.
JAMA Neurol. 2015 Feb;72(2):224-8. doi: 10.1001/jamaneurol.2014.3308.
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.
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.
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.
后部皮质萎缩症（PCA）的特征是进行性视知觉和视空间缺陷，通常被认为是阿尔茨海默病的非典型变异。GRN 基因突变负责很大的表型谱，但据我们所知，PCA 与 GRN 突变的关联从未被描述过。
我们研究了一位患者，他表现为隐匿性基本视知觉技能受损和知觉性视觉失认，伴有主要的后部萎缩，对应于 PCA 的视觉/腹侧变异。在该患者中发现了杂合的 p.Arg110*（c.328C>T）GRN 突变。
这项研究扩展了可能导致 PCA 表型的 GRN 突变的临床谱。GRN 表型与其他退行性痴呆症重叠，突显了痴呆症中现有分类边界的局限性。在 PCA 患者中，特别是当损伤进展到大脑前区且存在痴呆家族史时，应分析 GRN 基因。
