C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.
C9ORF72 hexanucleotide repeat expansions in the Italian sporadic ALS population.
复制标题
DOI：
10.1016/j.neurobiolaging.2012.02.011
复制
发表时间：
2012-08
影响因子：
4.2
通讯作者：
Chiò A
中科院分区：
文献类型：
--
作者：
Sabatelli M;Conforti FL;Zollino M;Mora G;Monsurrò MR;Volanti P;Marinou K;Salvi F;Corbo M;Giannini F;Battistini S;Penco S;Lunetta C;Quattrone A;Gambardella A;Logroscino G;Simone I;Bartolomei I;Pisano F;Tedeschi G;Conte A;Spataro R;La Bella V;Caponnetto C;Mancardi G;Mandich P;Sola P;Mandrioli J;Renton AE;Majounie E;Abramzon Y;Marrosu F;Marrosu MG;Murru MR;Sotgiu MA;Pugliatti M;Rodolico C;ITALSGEN Consortium;Moglia C;Calvo A;Ossola I;Brunetti M;Traynor BJ;Borghero G;Restagno G;Chiò A
最近有报道称，家族性肌萎缩侧索硬化症(家族性ALS)和额颞性痴呆(FTD)患者中有很大一部分与C9ORF72第一内含子中的六核苷酸(GGGGCC)重复扩增有关。我们评估了1757例意大利散发性肌萎缩侧索硬化症病例，其中133例来自撒丁岛，101例来自西西里岛，1523例来自意大利大陆。在1624名意大利大陆人和西西里人中有60人(3.7%)和133名撒丁岛散发性ALS病例中有9人(6.8%)携带致病重复扩增。在619个区域匹配的对照样本(1,238条染色体)中，没有一例携带扩增。25例(36.2%)除ALS外还有行为性FTD。在ALS患者的一级亲属中，19个家系(27.5%)也检测到FTD或不明原因的痴呆。携带C9ORF72六核苷酸扩展的病例比没有携带该突变的病例存活时间短一年。综上所述，我们发现在意大利和撒丁岛人群中，C9ORF72六核糖重复扩增在明显的散发性ALS中占有相当大的比例，是迄今为止在意大利最常见的突变，在撒丁岛第二常见。
It has been recently reported that a large proportion of patients with familial amyotrophic lateral sclerosis (familial ALS) and frontotemporal dementia (FTD) are associated with a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72. We have assessed 1,757 Italian sporadic ALS cases, 133 from Sardinia, 101 from Sicily, and 1,523 from mainland Italy. Sixty (3.7%) of 1,624 mainland Italians and Sicilians and 9 (6.8%) of the 133 Sardinian sporadic ALS cases carried the pathogenic repeat expansion. None of the 619 regionally-matched control samples (1,238 chromosomes) carried the expansion. Twenty-five cases (36.2%) had behavioral FTD in addition to ALS. FTD or unspecified dementia was also detected in 19 pedigrees (27.5%) in first-degree relatives of ALS patients. Cases carrying the C9ORF72 hexanucleotide expansion survived one year less than cases who did not carry this mutation. In conclusion, we found that C9ORF72 hexanucloetide repeat expansions represents a sizeable proportion of apparent sporadic ALS in the Italian and Sardinian population, representing by far the commonest mutation in Italy and the second more common in Sardinia.
登录
查看更多内容
影响因子：
4.2
作者：
Lai, Shiao-Lin;Abramzon, Yevgeniya;Schymick, Jennifer C.;Stephan, Dietrich A.;Dunckley, Travis;Dillman, Allissa;Cookson, Mark;Calvo, Andrea;Battistini, Stefania;Giannini, Fabio;Caponnetto, Claudia;Luigi, Giovanni;Spataro, Rossella;Monsurro, Maria Rosaria;Tedeschi, Gioacchino;Marinou, Kalliopi;Sabatelli, Mario;Conte, Amelia;Mandrioli, Jessica;Sola, Patrizia;Salvi, Fabrizio;Bartolomei, Ilaria;Lombardo, Federica;Mora, Gabriele;Restagno, Gabriella;Chio, Adriano;Traynor, Bryan J.
通讯作者：
Traynor, Bryan J.
影响因子：
14.5
作者：
Chio, Adriano;Borghero, Giuseppe;Sabatelli, Mario
通讯作者：
Sabatelli, Mario
影响因子：
16.2
作者：
DeJesus-Hernandez M;Mackenzie IR;Boeve BF;Boxer AL;Baker M;Rutherford NJ;Nicholson AM;Finch NA;Flynn H;Adamson J;Kouri N;Wojtas A;Sengdy P;Hsiung GY;Karydas A;Seeley WW;Josephs KA;Coppola G;Geschwind DH;Wszolek ZK;Feldman H;Knopman DS;Petersen RC;Miller BL;Dickson DW;Boylan KB;Graff-Radford NR;Rademakers R
通讯作者：
Rademakers R
影响因子：
5.1
作者：
Del Bo, R.;Ghezzi, S.;Comi, G. P.
通讯作者：
Comi, G. P.
DOI：
10.1080/146608200300079536
发表时间：
2000-12-01
期刊：
AMYOTROPHIC LATERAL SCLEROSIS AND OTHER MOTOR NEURON DISORDERS
影响因子：
--
作者：
Brooks, BR;Miller, RG;Munsat, TL
通讯作者：
Munsat, TL