Cases Report And Clinical Analysis Of Spinocerebellar Ataxia Type2(SCA2)

Background:Spinocerebellar ataxias (SCAs) are a clinically and genetically heterogeneous group of neurodegenerative disorders. It’s a kind of monogenic neurodegenerative diseases, which belongs to autosomal dominant cerebellar ataxia. It manifests with progressive deterioration of balance and coordination. Spinocerebellar ataxia type2(SCA2), accounting for about15%among SCAs in the world, is caused by an abnormal expansion of the polyQ stretch in disease-causative proteins. It is characterized by the typical clinical manifestations such as oculomotor disturbance, dysarthria, peripheral neuropathy, extrapyramidal signs and, always, mental retardation. The clinical manifestation of SCA2is complicated, and the molecular genetic diagnosis plays an important role. However, the rate of misdiagnosis elevates since the insufficient knowledge of this kind of disease and the uncommon use of molecular genetic test. Analyze and then conclude the clinical characteristics and the reasons of these two misdiagnosed cases. Review the literatures and add the clinical differential diagnoses which should be noted on in the clinical work.Objective:To evaluate the clinical features of SCA2by reporting the two missed cases of spondylosis. Analyze the value of molecular biological diagnostic techniques in the clinical diagnosis of modern neurology, to provide the theoretical basis for more accurate diagnosis and the best treatment.Methods:The materials of two missed cases of SCA2manifesting with spondylosis, including clinical and laboratory data, images, results of molecular genetic testing and treatments, were analyzed retrospectively. Measure the improvement before and after the treatment with scales. Discuss and sum the ideas of the clinical diagnosis of the spinocerebellar ataxia.Results:The two cases were adult-onset, manifesting with spondylosis as the first signs. They were getting worse within one year, though they both received the treatment of spondylosis and peripheral neuropathy. Then the cerebellar signs came out. Brain MRI showed atrophy of the cerebellum. Both the two patients conducted the genetic tests, which indicated the diagnosis of SCA2. They were relieved after the treatment of drugs targeting for mitochondrial and metabolic improvement of the brain.Conclusion:SCAs (SCA2) have a group of complicated clinical manifestations, including cerebellar and uncerebellar symptoms, which are easily misdiagnosed as spondylosis. The accurate clinical diagnosis is the basis of treatment. SCAs should be excluded in further, if the proof of cerebellar atrophy is found. Idebenone/CoQ10and Butylphthalide can improve partial clinical symptoms.