CADASIL: Skin biopsy allows diagnosis in early stages
CADASIL: Skin biopsy allows diagnosis in early stages
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DOI：
10.1111/j.1600-0404.1997.tb00224.x
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发表时间：
1997-06-01
影响因子：
3.5
通讯作者：
Schwendemann, G
中科院分区：
文献类型：
--
作者：
Ebke, M;Dichgans, M;Schwendemann, G
目的-我们的目的是研究皮肤活检对CADASIL患者的诊断作用。材料和方法-八个同意CADASIL患者属于德国白人亲属进行了评估，临床，遗传，MRI和皮肤活检。将皮肤活检结果与5例散发性白质脑病患者（对照组）进行比较。结果-6例CADASIL患者表现出从偏头痛到严重四肢轻瘫伴痴呆的症状。2例临床未受影响的患者MRI异常。MRI上7例患者表现为不同程度的白质脑病。一名22岁的女性偏头痛患者MRI正常。在所有8名患者的皮肤活检中发现了颗粒状、电子致密、嗜锇性物质（GEM），其中包括一名22岁的偏头痛女性，MRI正常。遗传连锁分析表明，她携带疾病单倍型。对照组未见GEM。结论：我们的发现证实了皮肤活检在确定CADASIL家族携带者状态中的作用.
Objectives - Our aim was to investigate the diagnostic impact of skin biopsies in CADASIL patients. Materials and methods - Eight consenting CADASIL patients belonging to a German-Caucasian kindred were assessed clinically, genetically, by MRI and skin biopsy. Skin biopsy results were compared to 5 patients suffering from sporadic leucoencephalopathies (control group). Results - Six CADASIL patients presented with symptoms ranging from migraine to severe tetraparesis with dementia. Two clinically unaffected patients had abnormal MRIs. On MRI7 patients showed various degrees of leucoencephalopathy. One 22-year-old woman with migraine had a normal MRI. Granular, electron dense, osmiophilic material (GEM) was found in skin biopsies of all 8 patients including the 22-year-old woman with migraine and a normal MRI. As shown by genetic linkage analysis she was carrying the disease haplotype. GEM was not found in the control group. Conclusion - Our findings substantiate the impact of skin biopsies in defining the carrier status in CADASIL families.