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KMID : 1197720110040020075
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대한파킨슨병 및 이상운동질환 학회지
2011 Volume.4 No. 2 p.75 ~ p.77
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Oromandibular Dyskinesia as the Initial Manifestation of Late-Onset Huntington Disease
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Oh Dong-Seok
Park Eun-Seon
Choi Seong-Min
Kim Byeong-Chae
Kim Myeong-Kyu
Cho Ki-Hyun
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Abstract
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Huntington’s disease (HD) is a neurodegenerative disorder characterized by a triad of choreoathetosis, dementia and dominant inheritance. The cause of HD is an expansion of CAG trinucleotide repeats in the HD gene. Typical age at onset of symptoms is in the 40s, but the disorder can manifest at any time. Late-onset (≥ 60 years) HD is clinically different from other adult or juvenile onset HD and characterized by mild motor problem as the initial symptoms, shorter disease duration, frequent lack of family history, and relatively low CAG repeats expansion. We report a case of an 80-year-old female with oromandibular dyskinesia as an initial manifestation of HD and 40 CAG repeats.
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KEYWORD
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Late-onset Huntington disease, Intermediate CAG repeats, Oromandibular dyskinesia
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