Transcranial sonography findings in a large family with homozygous and heterozygous PINK1 mutations
Transcranial sonography findings in a large family with homozygous and heterozygous PINK1 mutations
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DOI：
10.1136/jnnp.2007.142174
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发表时间：
2008-09-01
影响因子：
11
通讯作者：
Seidel, G.
中科院分区：
文献类型：
--
作者：
Hagenah, J. M.;Becker, B.;Seidel, G.
目的：探讨纯合子和杂合子 PTEN 诱导激酶（PINK1）突变家族成员（无论是否患有帕金森病（PD））的黑质（SN）回声原性。方法：采用经颅超声（TCS）技术对 20 名 PINK1 突变家族成员进行调查，其中 4 名纯合子和 11 名杂合子突变携带者以及 5 名无突变个体。为了进行比较，对由 18 名无 PD 阳性家族史的受试者组成的健康对照组（对照组）和由 15 名有散发性 PD 阳性家族史的受试者组成的健康对照组（相对组）进行了研究。为了进行统计分析，选择每个个体的两个 SN 回声性（aSNmax）的较大面积。结果：与对照组相比，所有亚组的 aSNmax 均显着增加。与除杂合子突变携带者组外的所有其他亚组相比，PINK1 突变纯合子携带者组的 aSNmax 显着增加。结论：PINK1 突变携带者的这些发现与 Parkin 突变和非遗传性 PD 携带者的结果相当。无突变的家庭成员中 aSNmax 的增加表明，有一个独立于 PINK1 突变的额外影响因素，该因素也可能在散发性 PD 患者的亲属中发挥作用。
Objective: To investigate substantia nigra (SN) echo-genicity in members of a family with homozygous and heterozygous PTEN induced kinase (PINK1) mutations with or without signs of Parkinson's disease (PD).Methods: Transcranial sonography (TCS) was used to investigate 20 members of a family with PINK1 mutations, including four homozygous and 11 heterozygous mutation carriers and five individuals with no mutation. For comparison, a healthy control group of 18 subjects without a positive family history of PD (control group) and a healthy control group of 15 subjects with a positive family history of sporadic PD (relative group) were investigated. For statistical analysis, the larger area of the two SNs echogenicity (aSNmax) of each individual was selected.Results: A significantly increased aSNmax was found for all subgroups compared with the control group. The group of homozygous carriers of a PINK1 mutation had a significantly increased aSNmax compared with all of the other subgroups, except the group of heterozygous mutation carriers.Conclusions: These findings in carriers of a PINK1 mutation are comparable with those in carriers of Parkin mutations and non-genetic PD. The increased aSNmax in family members without a mutation suggests an additional contributing factor independent of the PINK1 mutation that may also play a role in relatives of patients with sporadic PD.