A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction.
A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction.
复制标题
DOI：
10.1016/j.parkreldis.2009.06.007
复制
发表时间：
2009-11
影响因子：
4.1
通讯作者：
Nilsson C
中科院分区：
文献类型：
--
作者：
Puschmann A;Ross OA;Vilariño-Güell C;Lincoln SJ;Kachergus JM;Cobb SA;Lindquist SG;Nielsen JE;Wszolek ZK;Farrer M;Widner H;van Westen D;Hägerström D;Markopoulou K;Chase BA;Nilsson K;Reimer J;Nilsson C
在一个瑞典常染色体显性帕金森病（PD）家系中发现了α-突触核蛋白A53 T（p.Ala53Thr; c.209G>A）的新突变。两名受影响的个体有早发性（31岁和40岁之前），严重的左旋多巴反应性PD，伴有明显的言语障碍、构音障碍和认知能力下降。纵向临床随访、EEG、SPECT和CSF生物标志物检查提示潜在脑病伴皮质受累。突变的等位基因（c.209A）存在于一个不同于意大利（Contursi）和希腊-美国家庭H激酶突变携带者之间共享的单倍型内。一个未受影响的家庭成员进行突变单倍型没有c.209A突变，强烈表明其从头发生在这个家庭。此外，在早老素-2（PSEN 2）基因中检测到一个新的突变c.488G>A（p.Arg163His; R163 H），但与疾病状态无关。
A de novo α-synuclein A53T (p.Ala53Thr; c.209G>A) mutation has been identified in a Swedish family with autosomal dominant Parkinson's disease (PD). Two affected individuals had early-onset (before 31 and 40 years), severe levodopa-responsive PD with prominent dysphasia, dysarthria, and cognitive decline. Longitudinal clinical follow-up, EEG, SPECT and CSF biomarker examinations suggested an underlying encephalopathy with cortical involvement. The mutated allele (c.209A) was present within a haplotype different from that shared among mutation carriers in the Italian (Contursi) and the Greek-American Family H kindreds. One unaffected family member carried the mutation haplotype without the c.209A mutation, strongly suggesting its de novo occurrence within this family. Furthermore, a novel mutation c.488G>A (p.Arg163His; R163H) in the presenilin-2 (PSEN2) gene was detected, but was not associated with disease state.
登录
查看更多内容
影响因子：
82.9
作者：
Conway, KA;Harper, JD;Lansbury, PT
通讯作者：
Lansbury, PT
影响因子：
11
作者：
Mezey, E;Dehejia, AM;Polymeropoulos, MH
通讯作者：
Polymeropoulos, MH
影响因子：
4.1
作者：
Puschmann, Andreas;Wszolek, Zbigniew K.;Nilsson, Christer
通讯作者：
Nilsson, Christer
影响因子：
11.2
作者：
MARKOPOULOU, K;WSZOLEK, ZK;PFEIFFER, RF
通讯作者：
PFEIFFER, RF
影响因子：
11.2
作者：
CALNE, DB;SNOW, BJ;LEE, C
通讯作者：
LEE, C