额颞叶痴呆-帕金森病伴静止性和运动性震颤的基因变异型。
Frontotemporal Dementia-Parkinsonism Due to Gene Variant Presenting with Rest and Action Tremor.
机构信息
Department of Neurology, Manchester Centre for Clinical Neurosciences, Northern Care Alliance NHS Foundation Trust, Stott Lane, Salford, M6 8HD, UK.
Department of Neurology, Manchester Centre for Clinical Neurosciences, Northern Care Alliance NHS Foundation Trust, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.
出版信息
Tremor Other Hyperkinet Mov (N Y). 2023 Sep 21;13:35. doi: 10.5334/tohm.804. eCollection 2023.
A 50-year-old male presented with a four-year history of gradually progressive rest tremor in the distal right lower limb and then spreading to the left lower limb in last 10-12 months. He developed right arm rest and action tremor two years later. Magnetic resonance imaging scans showed progressive frontotemporal and asymmetrical mesial temporal atrophy. Genetic testing revealed a heterozygous c.915+16C>T pathogenic variant in intron 9 of the gene. Presentation with rest tremor should not exclude frontotemporal dementia-parkinsonism due to a variant as a differential diagnosis though rest tremor is a rare presentation.
一位 50 岁男性，四年前出现右下肢远端进行性静止性震颤，随后在过去 10-12 个月内扩散至左下肢。两年后出现右臂静止性和动作性震颤。磁共振成像扫描显示进行性额颞叶和不对称性内侧颞叶萎缩。基因检测显示 基因 9 号内含子中的杂合 c.915+16C>T 致病性变异。尽管静止性震颤是一种罕见的表现，但由于该变异作为鉴别诊断，出现静止性震颤不应该排除额颞叶痴呆-帕金森病。
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