A patient carrying a homozygous p.A382T TARDBP missense mutation shows a syndrome including ALS, extrapyramidal symptoms, and FTD

被引：41

作者：

Borghero, Giuseppe ^{[2
]}

Floris, Gianluca ^{[2
]}

Cannas, Antonino ^{[2
]}

Marrosu, Maria G. ^{[2
]}

Murru, Maria R. ^{[1
]}

Costantino, Emanuela ^{[2
]}

Parish, Leslie D. ^{[3
]}

Pugliatti, Maura ^{[3
]}

Ticca, Anna ^{[4
]}

Traynor, Bryan J. ^{[5
,6
]}

Calvo, Andrea ^{[7
,8
]}

Cammarosano, Stefania ^{[7
,8
]}

Moglia, Cristina ^{[7
,8
]}

Cistaro, Angelina ^{[9
]}

Brunetti, Maura ^{[10
]}

Restagno, Gabriella ^{[10
]}

Chio, Adriano ^{[7
,8
]}

机构：

[1] Univ Cagliari, Multiple Sclerosis Ctr Lab, Cagliari, Italy

[2] Azienda Univ Osped Cagliari, Dept Neurol, Cagliari, Italy

[3] Univ Sassari, Dept Neurosci, I-07100 Sassari, Italy

[4] Azienda Osped San Francesco, Dept Neurol, Nuoro, Italy

[5] NIA, Neuromuscular Dis Res Grp, Neurogenet Lab, NIH, Bethesda, MD 20892 USA

[6] Johns Hopkins Univ Hosp, Dept Neurol, Baltimore, MD 21287 USA

[7] Univ Turin, ALS Ctr, Dept Neurosci, San Giovanni Univ Hosp, I-10126 Turin, Italy

[8] NIT, Turin, Italy

[9] IRMET, Positron Emiss Tomog Ctr, Turin, Italy

[10] Osped Infantile Regina Margherita St Anna, Azienda Sanit Osped, Mol Genet Lab, Turin, Italy

来源：

NEUROBIOLOGY OF AGING | 2011年 / 32卷 / 12期

关键词：

amyotrophic lateral sclerosis; frontotemporal dementia; TARDBP; homozygous mutation; AMYOTROPHIC-LATERAL-SCLEROSIS; TDP-43;

D O I：

10.1016/j.neurobiolaging.2011.06.009

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

We have recently published data showing that a founder mutation of the TARDBP gene (p.A382T) accounts for approximately one third of amyotrophic lateral sclerosis (ALS) cases on the Mediterranean island of Sardinia (Chi et al., 2011). In that report, we identified a 53-year-old man carrying a homozygous A382T missense mutation of the TARDBP gene with a complex neurological syndrome including amyotrophic lateral sclerosis, parkinsonian features, motor and vocal tics, and frontotemporal dementia (FTD). Due to the uniqueness of this case, here we provide a detailed clinical description, as well as neurophysiological, neuropsychological, and neuroimaging data for that case and his extended family. (C) 2011 Elsevier Inc. All rights reserved.

引用

页码：2327.e1 / 2327.e5

页数：5

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