Clinical features of spinocerebellar ataxia type 12(report of one family)

VernacularTitle:脊髓小脑性共济失调12型的临床特征(附1家系报告)
Author: Meili LIU ¹ ; Fengchao GONG ; Anqi HUANG
Author Information

1. 061000 河北省沧州中西医结合医院脑病二科
Publication Type:Journal Article
Keywords: spinocerebellar ataxia; autosomal dominant inheritance; family; gene
From: Journal of Clinical Neurology 2025;38(1):60-64
CountryChina
Language:Chinese
Abstract: 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.