Young Eun Kim1, Beomseok Jeon2, Matthew J Farrer3, Erika Scott3, Ilaria Guella3, Sung Sup Park4, Jong Min Kim5, Hye Young Park6, Aryun Kim6, Young Don Son7, Zang Hee Cho8. 1. Department of Neurology, Hallym University Sacred Heart Hospital, Hallym University College of Medicine, Anyang, Republic of Korea. 2. Departments of Neurology and Movement Disorder Center, College of Medicine, Seoul National University, Seoul, Republic of Korea. Electronic address: brain@snu.ac.kr. 3. Centre for Applied Neurogenetics, Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada. 4. Department of Laboratory Medicine, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Republic of Korea. 5. Departments of Neurology and Movement Disorder Center, College of Medicine, Seoul National University Bundang Hospital, Sungnam, Republic of Korea. 6. Departments of Neurology and Movement Disorder Center, College of Medicine, Seoul National University, Seoul, Republic of Korea. 7. Neuroscience Research Institute, Gachon University, Incheon, Republic of Korea. 8. Graduate School of Convergence Science and Technology, Seoul National University, Suwon, Republic of Korea.
Abstract
OBJECTIVE: We describe a Korean family in SCA2 with long-duration levodopa-responsive parkinsonism without cerebellar ataxia. METHODS: Clinical evaluation, genetic testing, and extensive imaging studies were done. RESULTS: All family members showed a typical Parkinson's disease phenotype without cerebellar ataxia for a long disease duration (up to 34 years). Genetic testing showed 40 CAG repeats and 4 CAA interruptions which is the longest repeat number among the families or patients manifesting with a parkinsonian phenotype without ataxia. Structural imaging (7T MRI and brain CT) showed a normal cerebellum and functional images showed nigrostriatal dopaminergic degeneration and normal D2 receptor binding activity, in agreement with the clinical phenotype. CONCLUSION: SCA2 should be considered as a cause of typical Parkinson's disease phenotype even in the absence of cerebellar ataxia.
OBJECTIVE: We describe a Korean family in SCA2 with long-duration levodopa-responsive parkinsonism without cerebellar ataxia. METHODS: Clinical evaluation, genetic testing, and extensive imaging studies were done. RESULTS: All family members showed a typical Parkinson's disease phenotype without cerebellar ataxia for a long disease duration (up to 34 years). Genetic testing showed 40 CAG repeats and 4 CAA interruptions which is the longest repeat number among the families or patients manifesting with a parkinsonian phenotype without ataxia. Structural imaging (7T MRI and brain CT) showed a normal cerebellum and functional images showed nigrostriatal dopaminergic degeneration and normal D2 receptor binding activity, in agreement with the clinical phenotype. CONCLUSION:SCA2 should be considered as a cause of typical Parkinson's disease phenotype even in the absence of cerebellar ataxia.