RFC1基因双等位基因扩增作为帕金森病的罕见病因
Biallelic expansion in RFC1 as a rare cause of Parkinson's disease.
作者信息
Kytövuori Laura, Sipilä Jussi, Doi Hiroshi, Hurme-Niiranen Anri, Siitonen Ari, Koshimizu Eriko, Miyatake Satoko, Matsumoto Naomichi, Tanaka Fumiaki, Majamaa Kari
机构信息
Research Unit of Clinical Neuroscience, Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.
Department of Neurology, Oulu University Hospital, Oulu, Finland.
出版信息
NPJ Parkinsons Dis. 2022 Jan 10;8(1):6. doi: 10.1038/s41531-021-00275-7.
An intronic expansion (AAGGG) in the RFC1 gene has recently been shown to cause recessively inherited cerebellar ataxia, neuropathy, and vestibular areflexia syndrome and, furthermore, a few patients with ataxia and parkinsonism have been reported. We investigated 569 Finnish patients with medicated parkinsonism for RFC1 and found biallelic (AAGGG) in three non-consanguineous patients with clinically confirmed Parkinson's disease without ataxia suggesting that RFC1-related disorders include Parkinson's disease as well.
最近研究表明，RFC1基因中的内含子扩张（AAGGG）会导致隐性遗传性小脑共济失调、神经病变和前庭反射消失综合征，此外，还报道了一些患有共济失调和帕金森症的患者。我们对569名患有药物性帕金森症的芬兰患者进行了RFC1基因检测，在3名非近亲的临床确诊帕金森病患者中发现了双等位基因（AAGGG），这些患者无共济失调症状，这表明RFC1相关疾病也包括帕金森病。
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