Early Onset Cerebellar Ataxia with Retained Tendon Reflexes Developed in Brothers: Report of two cases. |
Park, Jeong Mee , Park, Tae Il , Park, Roh Wook |
1Department of Rehabiliatation Medicine, Yonsei University, Wonju College of Medicine, Korea. 2Department of Neurosurgery, Yonsei University, Wonju College of Medicine, Korea. |
형제에서 발생한 심부건반사가 유지된 조발형 소뇌성 운동실조증 증례 보고 |
박정미, 박태일*, 박노욱 |
연세대학교 원주의과대학 재활의학교실 및 신경외과학교실* |
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Abstract |
Early onset cerebellar ataxia with retained tendon reflexes is distinctive clinical syndrome characterized by progressive cerebellar ataxia of unknown etiology with an onset within the first two decades. This disorder was distinguished from Friedreich's ataxia by the preservation of the deep tendon reflexes. There is 22-year-old male with 13 year history of slowly progressive cerebellar ataxia and dysarthria. His elder brother, also, has milder clinical manifestations, electrophysiological and radiological abnormalities. We experienced two cases of early onset cerebellar ataxia with retained tendon reflexes developed in brothers which was diagnosed by clinical manifestations, electrophysiologic, radiologic studies and report with brief review of related literatures. |
Key Words:
Cerebellar ataxia, Tendon reflexes, Friedreich's ataxia |
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