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帕金森病 8 号基因(I2020T)患者脑脊液中的生物喋呤水平。

Biopterin levels in the cerebrospinal fluid of patients with PARK8 (I2020T).

机构信息

Department of Biomolecular Engineering, Graduate School of Bioscience and Biotechnology, Tokyo Institute of Technology, 4259-B7 Nagatsuta, Midori-ku, Yokohama 226-8501, Japan.

出版信息

J Neural Transm (Vienna). 2011 Jun;118(6):899-903. doi: 10.1007/s00702-011-0587-8. Epub 2011 Feb 3.

Abstract

PARK8 is the most common form of familial Parkinson's disease (PD). We measured biopterin and monoamine metabolite levels in the cerebrospinal fluids of 7 PARK8 patients (I2020T mutation in leucine-rich repeat kinase 2), 2 asymptomatic mutation carriers, and 21 sporadic PD patients. The biopterin levels in PARK8 patients were significantly higher than those in sporadic PD patients, although the symptoms were comparable in both groups, suggesting that PARK8 patients exhibit parkinsonian symptoms with higher biopterin levels than sporadic PD patients.

摘要

PARK8 是最常见的家族性帕金森病(PD)形式。我们测量了 7 名 PARK8 患者(富含亮氨酸重复激酶 2 的 I2020T 突变)、2 名无症状突变携带者和 21 名散发性 PD 患者脑脊液中的生物蝶呤和单胺代谢物水平。尽管两组患者的症状相当,但 PARK8 患者的生物蝶呤水平明显高于散发性 PD 患者,这表明 PARK8 患者表现出帕金森症状,其生物蝶呤水平高于散发性 PD 患者。

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