Objective: To report cases of SCA2 presenting with chorea, which have not been reported in Korea

Background: Spinocerebellar ataxias (SCAs) manifest ethnic and geographical differences in frequency, and clinical phenotypes. Chorea in SCA2 patients has been reported with variable frequencies up to about 15%. However, no SCA2 cases with choreic manifestation have yet been reported in Korea. As SCA2 is the most common subtype in Korea, it is expected to encounter this rare phenotypic variation in Korean SCA2 patients.

Methods: Case report.

Results: Case 1: A 15-year-old boy visited for second opinion, who had been diagnosed with SCA2 with 57 CAG repeats. At his age of 7, gait disturbance and cognitive impairment appeared and progressed. At age 10, neurologic examination revealed cognitive impairment, dysarthria, myoclonus, and ataxic gait. He showed neither parkinsonism nor dystonia. Levodopa was of no benefit. Other medications were tried including amantadine, procyclidine, baclofen, clonazepam, midodrine, buspirone, alprazolam, quetiapine, or fluvoxamine. His mother had trouble walking from her late 30s and developed slowly progressive dysarthria and imbalance. In her neurologic examination at age 37, she had ataxic gait and hypometric saccade with normal velocity. Gene test showed 39 CAG repeats in ATXN2. The grandmother of the proband reportedly had gait problem in her senile age. At age 15, the patient became wheelchair-bound with severe cognitive impairment and hallucination. At this stage, severe generalized chorea with ataxia was his predominant symptoms. Choreic movements involved the whole body including face, neck, trunk, and 4 extremities, which were exacerbated during speaking, outstretching the arms, or standing up. Case 2: A 42-year-old man presented with clumsiness in the right arm and gait difficulty, which were slowly progressive. His mother had gait disturbance before she died at her age of 54, but she was not studied. Neurologic examination showed dysarthria, slow saccade, dysmetria, and ataxic gait. SCA2 was confirmed with 40 CAG repeats in the ATXN2 gene. He had no other medical history and did not take any drugs during the 4 years of follow-up period. At age 46, he developed mild chorea in his right hand, which did not impair activities of daily living. Choreic movements were more prominent during walking and worse in the right hand than the left.

Conclusions: We report two cases of SCA2 patients presenting generalized and focal chorea which supports a wide spectrum of phenotypes of SCA2.

References: 1. Pedroso JL, Braga-Neto P, Escorcio-Bezerra ML, Abrahão A, de Albuquerque MVC, Filho FMR, et al. Non-motor and Extracerebellar Features in Spinocerebellar Ataxia Type 2. Cerebellum 2017;16:34-39. 2. Kim HJ, Jeon BS, Lee WY, Chung SJ, Yong SW, Kang JH, et al. SCA in Korea and its regional distribution: A multicenter analysis. Parkinsonism and Related Disorders 2011;17:72-75.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/spinocerebellar-ataxia-type-2-presenting-with-chorea-korean-cases/