Dopaminergic dysfunction in unrelated, asymptomatic carriers of a single parkin mutation
Dopaminergic dysfunction in unrelated, asymptomatic carriers of a single parkin mutation
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DOI：
10.1212/01.wnl.0000148725.48740.6d
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发表时间：
2005-01-11
期刊：
影响因子：
9.9
通讯作者：
Piccini, P
中科院分区：
文献类型：
--
作者：
Khan, NL;Scherfler, C;Piccini, P
帕金森氏病通常是常染色体隐性遗传病；然而，两项研究表明，无症状的杂合子有黑质纹状体功能障碍，甚至表现出微妙的锥体外系征象。作者使用f -18-多巴PET研究了13个无症状的帕金杂合子，发现与对照组相比，尾状核、壳核、腹侧和背侧中脑的f -18-多巴摄取显著减少。4例有轻微的锥体外系征象。帕金森氏杂合性是黑质纹状体功能障碍的危险因素，在某些情况下可能导致晚发型帕金森氏病。
Parkin disease is usually autosomal recessive; however, two studies have shown that asymptomatic heterozygotes have nigrostriatal dysfunction and even manifest subtle extrapyramidal signs. The authors used F-18-dopa PET to study 13 asymptomatic parkin heterozygotes and found a significant reduction of F-18-dopa uptake in caudate, putamen, ventral, and dorsal midbrain compared with control subjects. Four had subtle extrapyramidal signs. Parkin heterozygosity is a risk factor for nigrostriatal dysfunction and in some may contribute to late-onset Parkinson disease.