Analysis of clinical and imaging features of patients with dentatorubral-pallidoluysian atrophy
Objective To understand the clinical and imaging features of dentatorubral-pallidoluysian atrophy (DRPLA). Methods A patient with DRPLA admitted to Xuanwu Hospital of Capital Medical University on April 30,2021 was selected. The clinical,imaging and genetic features of the patient were analyzed retrospectively,and the related literatures were reviewed. Results The patient was a 57-year-old female who develped the disease after the age of 20. The main clinical manifestations were ataxia,chorea and dementia. Imaging findings showed cerebellar and brainstem atrophy,and high T2 signal in brainstem,thalamus and white matter. The CAG repeats of DRPLA-related genes were 57 times. Previous literatures reported that DRPLA was a rare autosomal dominant hereditary disease,characterized by ataxia,dementia,myoclonus and epilepsy,and in the genetic diagnosis of adult patients,CAG gene repeats were less than 65 times. Conclusions Patients with cerebellar ataxia and involuntary activities accompanied by cognitive impairment should be considered DRPLA,and genetic detection of CAG repeats of DRPLA-related genes is feasible to make a clear diagnosis.
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