Novel Missense Progranulin Gene Mutation Associated with the Semantic Variant of Primary Progressive Aphasia

被引：15

作者：

Cerami, Chiara ^{[1
,2
]}

Marcone, Alessandra ^{[1
,2
]}

Galimberti, Daniela ^{[3
]}

Villa, Chiara ^{[3
]}

Fenoglio, Chiara ^{[3
]}

Scarpini, Elio ^{[3
]}

Cappa, Stefano F. ^{[1
,2
]}

机构：

[1] Ist Sci San Raffaele, Dept Clin Neurosci, Neurorehabil Unit, I-20132 Milan, Italy

[2] Univ Vita Salute San Raffaele, I-20132 Milan, Italy

[3] Univ Milan, Dept Pathophysiol & Transplantat, Neurol Unit,Dino Ferrari Ctr, Fdn Ca Granda,IRCCS Osped Maggiore Policlin, Milan, Italy

来源：

JOURNAL OF ALZHEIMERS DISEASE | 2013年 / 36卷 / 03期

关键词：

Frontotemporal lobar degeneration; GRN mutation; semantic variant of primary progressive aphasia; FRONTOTEMPORAL LOBAR DEGENERATION; DEMENTIA; VARIABILITY; PHENOTYPE; TAU; HETEROGENEITY; CARRIERS;

D O I：

10.3233/JAD-130317

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Progranulin (GRN) mutations are typically associated with the behavioral variant of frontotemporal dementia and the non-fluent variant of primary progressive aphasia phenotypes. Hereby, we describe a patient affected by semantic variant of primary progressive aphasia (svPPA) with a highly positive family history of dementia, carrying a novel GRN missense variation in exon 11 [g. 2897 C>T (p. Thr409Met)], predicted in silico to be damaging to protein structure and function. The variant was absent in 175 frontotemporal lobar degeneration (FTLD) patients and in 38 healthy subjects. This case confirms that GRN represents one of the most frequent FTLD genetic causes, suggesting that a screening is indicated in the case of svPPA presentation.

引用

页码：415 / 420

页数：6

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