Dopaminergic function in a family with the PARK6 form of autosomal recessive Parkinson's syndrome
Dopaminergic function in a family with the PARK6 form of autosomal recessive Parkinson's syndrome
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DOI：
10.1007/s00702-005-0281-9
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发表时间：
2005-10-01
影响因子：
3.3
通讯作者：
Auburger, G
中科院分区：
文献类型：
--
作者：
Kessler, KR;Hamscho, N;Auburger, G
一个有 7 个兄弟姐妹的西班牙近亲亲属的 PINK1 基因中的 G309D 突变，其中 3 人受到临床影响，最近被证明是 PARK6 型常染色体隐性帕金森综合征的病因。在这个家族中，我们使用 I-123-FP-CIT-和 I-123-碘苯甲酰胺-SPECT 研究了突触前和突触后多巴胺能功能，以确定分别与突触前多巴胺转运蛋白 (DAT) 和突触后 D2 受体的结合。所有 3 名 PARK6 患者均表现出纹状体 DAT 结合减少，后部优势与散发性特发性 PD 类似，但只有一名患者表现出明显的纹状体不对称。在其中两个兄弟姐妹中，DAT 结合显着增加。 IBZM-SPECT 在患者和同胞中均正常。我们的研究结果表明，与特发性帕金森病相比，I-123-FP-CIT-SPECT 在 PARK6 患者中显示出相似的 DAT 结合。杂合 PARK6 携带者中 DAT 结合增加可能是一个非常早期的临床前新发现，但其意义仍不清楚。
A G309D mutation in the PINK1 gene in a consanguineous Spanish kindred with seven siblings, three of whom are clinically affected, has recently been shown to be a cause of the PARK6 form of autosomal-recessive Parkinson's syndrome. In this family, we studied pre- and postsynaptic dopaminergic function using I-123-FP-CIT- and I-123- iodobenzamide- SPECT to determine binding to the presynaptic dopamine transporter (DAT) and postsynaptic D2 receptors respectively.All three PARK6 patients showed reduced striatal DAT binding with posterior preponderance similar to sporadic idiopathic PD, but only one patient showed significant striatal asymmetry. In two of the siblings, DAT binding was markedly increased. IBZM-SPECT was normal in both patients and sibs.Our findings indicate that I-123-FP-CIT-SPECT shows similar DAT binding in PARK6 patients compared to idiopathic Parkinson's disease. The increased DAT binding in heterozygous PARK6 carriers may be a new very early preclinical finding, but its significance is still unclear.