Co-Occurrence of the C9ORF72 Expansion and a Novel GRN Mutation in a Family with Alternative Expression of Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

被引：10

作者：

Testi, Silvia ^{[1
]}

Tamburin, Stefano ^{[2
]}

Zanette, Giampietro ^{[3
]}

Fabrizi, Gian Maria ^{[1
]}

机构：

[1] Univ Verona, Dept Neurol & Movement Sci, Sect Neuropathol, I-37134 Verona, Italy

[2] Univ Verona, Dept Neurol & Movement Sci, Sect Clin Neurol, I-37134 Verona, Italy

[3] Pederzoli Hosp, Neurol Sect, Verona, Italy

来源：

JOURNAL OF ALZHEIMERS DISEASE | 2015年 / 44卷 / 01期

关键词：

Amyotrophic lateral sclerosis (ALS); C9ORF72; frontotemporal lobar degeneration (FTLD); FTLD-ALS; GRN; REPEAT EXPANSION; HEXANUCLEOTIDE REPEAT; DISEASE; ALS; TMEM106B; CARRIERS; FTD; PHENOTYPE; GENES; MAPT;

D O I：

10.3233/JAD-141794

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

The C9ORF72 repeat expansion is the major cause of frontotemporal lobar degeneration (FTLD), amyotrophic lateral sclerosis (ALS), and FTLD-ALS. In the reported pedigree, the 47-year old proband, presenting a four-year history of frontotemporal dementia, carried the C9ORF72 expansion plus a novel GRN p.Cys246X mutation. The father and a paternal uncle, harboring the C9ORF72 expansion only, had died by pure ALS with onset at 63 and 76 years, respectively. The case report and a review of the literature emphasize that phenotypical variations of the FTLD-ALS spectrum could be due to digenic inheritance.

引用

页码：49 / 56

页数：8

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