Analysis Of Clinical Features And Gene Mutations In 10 Patients With Spinalcerebellar Ataxias

Objective We planned to analyze the clinical features and gene mutations of 10 patients with spinal cerebellar ataxia type 1,type 2,and type 3 diagnosed by genetic diagnosis,so as to understand the genetic,clinical heterogeneity and genetic anticipation,and to provide the basis for the diagnosis and differential diagnosis of SCAs.Methods Ten patients from 6 families diagnosed with Spinocerebellar ataxias(SCAs)by genetic testing in our hospital from January 2018 to June 2020 were selected as the research subjects.After informed consent of the patients and their families,the families were investigated,and clinical data and genetic diagnosis results were fully collected and retrospectively analyzed.Results The average age at onset of the 10 patients was 38.00±9.98 years.In each generation of 6 families,the age at onset was earlier in each generation,and the disease was more severe in each generation,which was consistent with the phenomenon of " anticipation ".The most common and prominent symptoms of the 10 patients were cerebellar ataxia(100%),followed by dysarrhythmia(80%),and painful spasms of the lower extremities(60%).The most common signs included impaired eye movement(60%),positive pathologic signs(50%),increased muscle tone(40%),active/hyperactive tendon reflex(40%),and reduced tendon reflex(40%).Parkinson’s syndrome was the main manifestation in 2 SCA2 patients,with 33 and 34 abnormal CAG repeats,respectively.Spastic paraplegia was the main manifestation in2 SCA3 patients,and the frequency of abnormal CAG repetition was 70 and 74,respectively.The remaining 6 patients(2 cases of SCA1,3 cases of SCA2,and 1 case of SCA3)presented with cerebellar ataxia as the main manifestation.Conclusion1.SCA1,SCA2 and SCA3 showed significant clinical heterogeneity,with cerebellar ataxia as the core symptom,and the extracerebellar symptoms were complex and changeable.SCA2 can present as a Parkinson’s syndrome phenotype and SCA3 as a spastic paraplegia phenotype.2.The clinical manifestations of SCA1,SCA2 and SCA3 are overlapping and each has its own characteristics.Clinical diagnosis,typing and differential diagnosis are difficult,and the clear diagnosis and genotyping depend on genetic testing.