Early-Onset Parkinson's Disease: A Novel Deletion Comprising the DJ-1 and TNFRSF9 Genes,Movement Disorders

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Early-Onset Parkinson's Disease: A Novel Deletion Comprising the DJ-1 and TNFRSF9 Genes
Movement Disorders ( IF 7.4 ) Pub Date : 2021-10-03 , DOI: 10.1002/mds.28812
Süleyman Güler ₁ , Tuğçe Gül ₂ , Şükran Güler ₃ , Maja C Haerle ₂ , A Nazlı Başak ₂

Affiliation

Patients with mutations in DJ-1 have early-onset Parkinson's disease and slow progression. Here we describe a Turkish family with a large deletion in the neighboring genes DJ-1 (del exons 1–5) and TNFRSF9 (del exons 1–6), raising the question if TNFRSF9 is a possible disease modifier.

中文翻译：

早发性帕金森病：包含 DJ-1 和 TNFRSF9 基因的新型缺失

DJ-1突变的患者患有早发性帕金森病并且进展缓慢。在这里，我们描述了一个土耳其家族，其邻近基因DJ-1（删除外显子 1-5）和TNFRSF9（删除外显子 1-6）有大量缺失，提出了TNFRSF9是否是可能的疾病调节剂的问题。

更新日期：2021-10-03

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