具有新型SLC19A3突变的欧洲裔人群中的生物素反应性基底节疾病。
Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations.
作者信息
Debs Rabab, Depienne Christel, Rastetter Agnès, Bellanger Agnès, Degos Bertrand, Galanaud Damien, Keren Boris, Lyon-Caen Olivier, Brice Alexis, Sedel Frédéric
机构信息
Federation of Nervous System Diseases, Assistance Publique-Hôpitaux de Paris, Hôpital de la Salpêtrière, Université Pierre et Marie Curie, Paris CEDEX 13, France.
出版信息
Arch Neurol. 2010 Jan;67(1):126-30. doi: 10.1001/archneurol.2009.293.
OBJECTIVE
To report the first 2 European cases of biotin-responsive basal ganglia disease and novel SLC19A3 mutations.
DESIGN
Case reports.
SETTING
University hospital. Patients A 33-year-old man and his 29-year-old sister, both of Portuguese ancestry, presented with recurrent episodes of encephalopathy. Between episodes patients exhibited generalized dystonia, epilepsy, and bilateral hyperintensities of the caudate and putamen.
MAIN OUTCOME MEASURES
Clinical and radiologic findings.
RESULTS
Administration of high doses of biotin or of a combination of biotin and thiamine during encephalopathies resulted in spectacular clinical and radiologic improvement in both patients. Sequencing of the SLC19A3 disclosed 2 novel mutations, both of which created premature stop codons in the protein sequence of hTHTR2.
CONCLUSION
This study demonstrates that biotin-responsive basal ganglia disease is a panethnic condition. A therapeutic trial with high doses of biotin and thiamine seems mandatory in every unexplained encephalopathy with bilateral lesions of putamen and caudate nuclei.
目的
报告欧洲首例2例生物素反应性基底节疾病及新型SLC19A3突变。
设计
病例报告。
地点
大学医院。患者一名33岁男性及其29岁的妹妹，均为葡萄牙裔，表现为反复发作的脑病。发作间期患者表现为全身性肌张力障碍、癫痫以及双侧尾状核和壳核高信号。
主要观察指标
临床及影像学表现。
结果
在脑病发作期间给予高剂量生物素或生物素与硫胺素联合使用后，两名患者的临床及影像学表现均有显著改善。对SLC19A3进行测序发现了2种新型突变，这两种突变均在hTHTR2蛋白序列中产生了过早的终止密码子。
结论
本研究表明生物素反应性基底节疾病是一种全种族疾病。对于每一例原因不明且伴有双侧壳核和尾状核病变的脑病，进行高剂量生物素和硫胺素的治疗试验似乎是必要的。
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