On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family
On an autosomal dominant form of retinal-cerebellar degeneration: an autopsy study of five patients in one family
复制标题
视网膜小脑变性的常染色体显性遗传形式：对一个家庭的五名患者进行的尸检研究
DOI：
--
复制
发表时间：
2004
影响因子：
12.7
通讯作者：
C. Broeckhoven
中科院分区：
文献类型：
--
作者：
J. Martin;N. Regemorter;L. Krols;J. Brucher;T. Barsy;H. Szliwowski;P. Evrard;C. Ceuterick;M.;H. Smet;F. Hayez;P. Willems;C. Broeckhoven
我们描述了一个家庭与常染色体显性形式的视网膜小脑萎缩。发病年龄和临床症状的严重程度存在极大的差异：一些患者在其整个生命中几乎保持无症状;另一些患者在35岁后出现严重的视网膜和小脑症状;另一些患者患有严重的疾病，在青春期发病，并在生命的第三个十年期间死亡;另一些患者在儿童早期发病，并普遍存在小脑症状。所有患者均未出现痴呆或癫痫。5例尸检中有4例显示严重的视网膜萎缩，所有5例尸检的特征还包括：（1）小脑萎缩，影响脊髓小脑束和橄榄小脑束，小脑皮质和小脑传出通路，（2）锥体通路和脑干和脊髓的运动神经元受累，（3）丘脑底核萎缩，苍白球萎缩程度较轻，黑质也有一定程度的损害。除1例患者外，后柱受影响较小。在这个家族中，我们排除了与脊髓小脑共济失调的两个基因座的连锁，即，SCA 1位于染色体6p，SCA 2位于染色体12 q，以及Machado-Joseph病（MJD）基因座位于染色体14 q。目前正在进行全基因组搜索，以检测致病基因。
We describe a family with an autosomal dominant form of retinal-cerebellar atrophy. There is an extreme variability in age of onset and severity of the clinical symptoms: some patients remain nearly asymptomatic throughout their entire life; others develop severe retinal and cerebellar symptoms after the age of 35 years; others suffer from a severe disorder with onset in adolescence and death during the third decade of life; in others the onset is in early childhood with prevalence of cerebellar symptoms. There is neither dementia nor epilepsy in any of the patients. Four out of five autopsies showed a severe retinal atrophy, and all five autopsies were also characterized by (1) a cerebellar atrophy affecting the spinocerebellar and olivocerebellar tracts, the cerebellar cortex and the efferent cerebellar pathways, (2) an involvement of the pyramidal pathways and of the motor neurons of brain stem and spinal cord, and (3) an atrophy of the subthalamic nucleus and to a much lesser extent of the pallidum, with also some damage to the substantia nigra. The posterior columns are much less affected except in one patient. In this family, we have excluded linkage with the two loci for spinocerebellar ataxia, i.e., SCA1 on chromosome 6p and SCA2 on chromosome 12q as well as with the locus for Machado-Joseph disease (MJD) on chromosome 14q. A genome-wide search is currently being performed to detect the disease locus responsible.
脊髓小脑性共济失调：人类 6 号染色体上两个标记之间常染色体显性基因座的定位。
影响因子：
9.8
作者：
Rich,SS;Wilkie,P;Schut,L;Vance,G;Orr,HT
通讯作者：
Orr,HT
使用多位点连锁分析将常染色体显性脊髓小脑性共济失调 (SCA1) 着丝粒分配到 6 号染色体短臂上的 HLA 区域。
影响因子：
9.8
作者：
Zoghbi,HY;Sandkuyl,LA;Ott,J;Daiger,SP;Pollack,M;O'Brien,WE;Beaudet,AL
通讯作者：
Beaudet,AL