Abstract：
We screened 62 late-onset ataxia patients for the AAGGG pathological expansion in the RFC-1 gene that, when biallelic, causes Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS). Nine patients tested positive. Six had a previous diagnosis of sporadic adult-onset ataxia (SAOA) and three of multisystem atrophy type C (MSA-C). Further six patients were heterozygous for the pathological RFC-1 expansion, four with an initial diagnosis of MSA-C and two of SAOA. In comparison with CANVAS, MSA-C patients had faster progression and shorter disease duration to walking with aids. An abnormal DaTscan does not seem to contribute to differential diagnosis between CANVAS and MSA-C.
摘要：
我们筛选了62例晚发性共济失调患者的RFC-1基因AAGGG病理扩增，当双等位基因时，导致小脑共济失调,神经病,前庭反射综合征（CANVAS）。9名患者检测呈阳性。六个先前诊断为散发性成人共济失调（SAOA），三个诊断为多系统萎缩C型（MSA-C）。另外6例患者的病理性RFC-1扩增是杂合的，四个初步诊断为MSA-C和两个SAOA。与帆布相比，MSA-C患者的病情进展更快，病程更短。异常的DaTscan似乎对CANVAS和MSA-C之间的鉴别诊断没有帮助。
