Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, China.
Department of Neurology, Ruian City People's Hospital, Ruian, China.
CNS Neurosci Ther. 2021 Oct;27(10):1251-1253. doi: 10.1111/cns.13723. Epub 2021 Sep 7.
A 37-year old man presented a slight delay in early developmental milestones, cognitive decline, difficulty walking, cerebellar signs and extrapyramidal signs. Brain magnetic resonance imaging (MRI) showed a thin corpus callosum, cerebral atrophy, non-specific white-matter hyperintensity, and cerebellar atrophy. The genetic test revealed a putative homozygous deletion in SPG21 from exon 3 through exon 7, which was further validated by long-range primer-walking PCR. This is the first report of Chinese patient with Mast syndrome carrying a large homozygous SPG21 deletion.
一位 37 岁男性表现为早期发育里程碑轻度延迟、认知能力下降、行走困难、小脑体征和锥体外系体征。脑部磁共振成像（MRI）显示胼胝体变薄、脑萎缩、非特异性白质高信号和小脑萎缩。基因检测显示 SPG21 外显子 3 到外显子 7 存在假定纯合缺失，通过长距离引物行走 PCR 进一步验证。这是首例携带大片段 SPG21 纯合缺失的中国 Mast 综合征患者的报告。
