โรคเซจากสมองน้อย โดยพันธุกรรม รายงานผู้ป่วย 1 ราย

บทคัดย่อ

          A 19 year old woman presented with ataxia, 3 months prior to consultation, progressive ataxia, no weakness and normal sensation, mild headache, no signs of increase intracranial pressure, and no long tract signs. All cerebellar signs positive both sides. Computerised Tomography of the brain showed brainstem and cerebellar atrophy. Genetic study showed trinucleotide repeated number 35 and abnormal of SCA1 gene compatible with Autosomal Dominant Cerebellar Ataxia type 1. The patient was treated with vitamin E and supportive treatment. During 3 years follow up, the neurological signs was stable.