PDF(Pubmed)
Abstract：
BACKGROUND: Heterozygous mutations in GBA1 gene are known as most common genetic risk factor for Parkinson\'s disease (PD). However, role of GBA1 mutations in non-α-synuclein disorders is unclear.
METHODS: Case index, 76 year-old woman referred to our movement disorders outpatient clinic for 2-year history of gait impairment, falls and motor slowness, with partial response to levodopa. Clinical and instrumental examinations were consistent with Progressive Supranuclear Palsy-Corticobasal Syndrome (PSP-CBS). Case 2 is older sister reporting depressive symptoms; however, she had dementia (MMSE 18/30), gait apraxia and vertical supranuclear gaze palsy (VSNGP). Case 3 is her deceased older sister who had been diagnosed with Corticobasal Syndrome (CBS). Case 4, older brother had been diagnosed with Parkinson\'s disease-dementia (PDD) with good response to levodopa. Two affected living siblings harboring same genetic variant.
CONCLUSIONS: To our knowledge, this is the first family showing such intrafamilial variability ranging from CBS to PDD to dementia.
METHODS: Case index, 76 year-old woman referred to our movement disorders outpatient clinic for 2-year history of gait impairment, falls and motor slowness, with partial response to levodopa. Clinical and instrumental examinations were consistent with Progressive Supranuclear Palsy-Corticobasal Syndrome (PSP-CBS). Case 2 is older sister reporting depressive symptoms; however, she had dementia (MMSE 18/30), gait apraxia and vertical supranuclear gaze palsy (VSNGP). Case 3 is her deceased older sister who had been diagnosed with Corticobasal Syndrome (CBS). Case 4, older brother had been diagnosed with Parkinson\'s disease-dementia (PDD) with good response to levodopa. Two affected living siblings harboring same genetic variant.
CONCLUSIONS: To our knowledge, this is the first family showing such intrafamilial variability ranging from CBS to PDD to dementia.
摘要：
背景：GBA1基因杂合突变是帕金森病（PD）最常见的遗传危险因素。然而,GBA1突变在非α-突触核蛋白疾病中的作用尚不清楚.
方法：案例索引，76岁的女性因2年的步态障碍病史而转诊到我们的运动障碍门诊，跌倒和运动缓慢，对左旋多巴有部分反应。临床和仪器检查与进行性核上性麻痹-皮质基底综合征（PSP-CBS）一致。案例2是姐姐报告抑郁症状；然而，她患有痴呆症（MMSE18/30），步态失用症和垂直核上凝视麻痹（VSNGP）。病例3是她去世的姐姐，她被诊断患有皮质基底综合征（CBS）。病例4，哥哥被诊断为帕金森病-痴呆（PDD），对左旋多巴反应良好。两个受影响的活着的兄弟姐妹具有相同的遗传变异。
结论：据我们所知，这是第一个显示从CBS到PDD再到痴呆的家族内变异的家族.
方法：案例索引，76岁的女性因2年的步态障碍病史而转诊到我们的运动障碍门诊，跌倒和运动缓慢，对左旋多巴有部分反应。临床和仪器检查与进行性核上性麻痹-皮质基底综合征（PSP-CBS）一致。案例2是姐姐报告抑郁症状；然而，她患有痴呆症（MMSE18/30），步态失用症和垂直核上凝视麻痹（VSNGP）。病例3是她去世的姐姐，她被诊断患有皮质基底综合征（CBS）。病例4，哥哥被诊断为帕金森病-痴呆（PDD），对左旋多巴反应良好。两个受影响的活着的兄弟姐妹具有相同的遗传变异。
结论：据我们所知，这是第一个显示从CBS到PDD再到痴呆的家族内变异的家族.
