Exclusion of linkage to chromosomes 14q, 2q37 and 8p21.1-q11.23 in a Serbian family with idiopathic basal ganglia calcification
Exclusion of linkage to chromosomes 14q, 2q37 and 8p21.1-q11.23 in a Serbian family with idiopathic basal ganglia calcification
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DOI：
10.1007/s00415-011-5985-1
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发表时间：
2011-09-01
影响因子：
6
通讯作者：
Pavlovic, Aleksandra
中科院分区：
文献类型：
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作者：
Kostic, Vladimir S.;Lukic-Jecmenica, Milica;Pavlovic, Aleksandra
在这项研究中，我们报告了一个患有特发性基底节钙化(IBGC)的多代塞尔维亚家庭的临床和影像资料，并排除了与14q、2q37和8p21.1-q11.23的连锁。18名家庭成员中有14人接受了亲自检查，其中11人进行了CT扫描。CT扫描显示，来自三代的6名家庭成员(4名有症状，2名无症状)存在对称性钙化。出现临床症状的年龄从22.0岁到55.4岁不等。主要的临床表现包括帕金森综合症、严重的步态障碍和步态冻结，以及运动障碍。经颅超声发现的高回声与同一结构内高信号钙化的CT图像很好地对应，而脑灌注单光子发射计算机断层扫描显示额叶皮质和基底节主要为低灌注区。排除与已知基因座的连锁后，我们的IBGC家系进一步证明了这种疾病的基因座异质性。对临床上受影响的个体的分析支持这样的观察，即IBGC的临床特征似乎在家庭内和家庭之间都不同。在两次观察到的传播中，临床症状开始的年龄似乎正在减少，这表明可能的遗传预期。
In this study we report clinical and imaging data from a multigenerational Serbian family with idiopathic basal ganglia calcification (IBGC) and exclusion of linkage to chromosome 14q, 2q37 and 8p21.1-q11.23. Fourteen out of 18 family members were personally examined and 11 of them were scanned with computed tomography (CT). CT scans revealed existence of symmetrical calcifications in six family members from three generations (four symptomatic and two asymptomatic). Age at onset of clinical symptoms varied between 22.0 and 55.4 years. The main clinical findings included parkinsonism, severe gait disturbances with freezing of gait, and dyskinesia. Hyperechogenicities identified by transcranial sonography corresponded well to the CT images of hyperintense calcifications in the same structures, whereas brain perfusion single photon emission computed tomography demonstrated predominant hypoperfusion in the frontal cortex and the basal ganglia. After exclusion of linkage to known loci, our pedigree with IBGC further demonstrates locus heterogeneity in this disorder. Analysis of clinically affected individuals supports observation that the clinical features of IBGC appear to be varied both within and between families. The age at onset of the clinical symptoms appeared to be decreasing in two observed transmissions, suggestive of possible genetic anticipation.