Objective To investigate the clinical features of spinocerebellar ataxia 12(SCA12).Methods The clinical data of a family with SC A1 2 diagnosed by gene detection were retrospectively analyzed,and the literature was reviewed.Results Three patients in this family were diagnosed as SCA12.Among them,2 patients with clinical symptoms were＞45 years old,the clinical symptoms were head tremor,upper limb tremor,voice tremor,dystonia and ataxia.Another one case was 31 years old,did not have relevant clinical manifestations yet.Cranial MRI showed that cerebral cortex atrophy was more serious than cerebellar atrophy in 2 patients.Conclusion SCA12 typically presents with upper limb tremor,with head tremor being less common,as the disease progresses,symptoms such as ataxia,dystonia,Parkinsonism,and cognitive impairment may develop,due to its highly heterogeneous clinical features,genetic testing can be helpful for diagnosis.

Objective To investigate the clinical features of spinocerebellar ataxia 12(SCA12).Methods The clinical data of a family with SC A1 2 diagnosed by gene detection were retrospectively analyzed,and the literature was reviewed.Results Three patients in this family were diagnosed as SCA12.Among them,2 patients with clinical symptoms were＞45 years old,the clinical symptoms were head tremor,upper limb tremor,voice tremor,dystonia and ataxia.Another one case was 31 years old,did not have relevant clinical manifestations yet.Cranial MRI showed that cerebral cortex atrophy was more serious than cerebellar atrophy in 2 patients.Conclusion SCA12 typically presents with upper limb tremor,with head tremor being less common,as the disease progresses,symptoms such as ataxia,dystonia,Parkinsonism,and cognitive impairment may develop,due to its highly heterogeneous clinical features,genetic testing can be helpful for diagnosis.

Since the global COVID-19 pandemic, SARS-CoV-2 infection, which causes COVID-19, has been associated with a range of diseases whose atypical manifestations have been increasingly reported. The mild encephalitis or encephalopathy associated with reversible corpus callosum lesions or mild encephalitis/encephalopathy with reversible splenial lesion (MERS) is a rare clinical and radiographic syndrome. At present, the pathogenesis of MERS caused by COVID-19 is still unclear, and its pathogenesis may include hypoxic damage, inflammatory response, immune disorders, changes in osmotic pressure, excitatory amino acid toxicity, oxidative stress and functional abnormalities of renin-angiotensin system. This paper reports a case of severe COVID-19 complicated with MERS, and discusses the pathogenesis from a pathophysiological point of view.