PDF(Pubmed)
Abstract：
UNASSIGNED: The tremor characteristics of patients with spinocerebellar ataxia 12 (SCA12) are often likened to those in patients with essential tremor (ET); however, data are sparse, and videotaped tremor examinations are rare.
UNASSIGNED: A 37-year-old woman with progressive hand and head tremors underwent genetic testing after conventional diagnostics failed to explain her symptoms. A PPP2R2B variation confirmed spinocerebellar ataxia type 12 (SCA12), a condition not previously considered because classical cerebellar signs were absent. The tremor characteristics of this patient differed in numerous respects from those seen in patients with ET.
UNASSIGNED: Although often likened to ET, under careful scrutiny, the tremor characteristics observed in this patient with SCA12 were inconsistent with those typically seen in ET. Such discrepancies highlight the necessity of careful phenotyping for tremor disorders, particularly in familial cases. Recognizing the specific tremor phenomenology of SCA12 and distinguishing it from ET is crucial to avoid misdiagnosis and to guide appropriate management and familial counseling.
UNASSIGNED: This report characterizes in detail an early-stage SCA12 patient initially misdiagnosed as essential tremor, underscoring the importance of nuanced clinical assessment and genetic testing in atypical tremor cases. Similar patients should be meticulously phenotyped to prevent misclassification and enhance our understanding of tremor pathophysiology.
UNASSIGNED: A 37-year-old woman with progressive hand and head tremors underwent genetic testing after conventional diagnostics failed to explain her symptoms. A PPP2R2B variation confirmed spinocerebellar ataxia type 12 (SCA12), a condition not previously considered because classical cerebellar signs were absent. The tremor characteristics of this patient differed in numerous respects from those seen in patients with ET.
UNASSIGNED: Although often likened to ET, under careful scrutiny, the tremor characteristics observed in this patient with SCA12 were inconsistent with those typically seen in ET. Such discrepancies highlight the necessity of careful phenotyping for tremor disorders, particularly in familial cases. Recognizing the specific tremor phenomenology of SCA12 and distinguishing it from ET is crucial to avoid misdiagnosis and to guide appropriate management and familial counseling.
UNASSIGNED: This report characterizes in detail an early-stage SCA12 patient initially misdiagnosed as essential tremor, underscoring the importance of nuanced clinical assessment and genetic testing in atypical tremor cases. Similar patients should be meticulously phenotyped to prevent misclassification and enhance our understanding of tremor pathophysiology.
摘要：
■脊髓小脑性共济失调12（SCA12）患者的震颤特征通常与特发性震颤（ET）患者的震颤特征相似；然而，数据是稀疏的，录像震颤检查很少见。
一名37岁的女性，在常规诊断未能解释她的症状后，接受了基因检测。PPP2R2B变异证实脊髓小脑共济失调12型（SCA12），以前没有考虑的情况，因为没有经典的小脑体征。该患者的震颤特征与ET患者的震颤特征在许多方面都不同。
■尽管经常被比作ET，在仔细审查下，在该SCA12患者中观察到的震颤特征与ET中常见的震颤特征不一致.这种差异凸显了对震颤疾病进行仔细表型分析的必要性，特别是在家族案件中。认识到SCA12的特定震颤现象学并将其与ET区分开来对于避免误诊并指导适当的管理和家庭咨询至关重要。
■本报告详细描述了早期SCA12患者最初被误诊为特发性震颤，强调在非典型震颤病例中进行细致的临床评估和基因检测的重要性。类似的患者应精心表型，以防止错误分类并增强我们对震颤病理生理学的了解。
一名37岁的女性，在常规诊断未能解释她的症状后，接受了基因检测。PPP2R2B变异证实脊髓小脑共济失调12型（SCA12），以前没有考虑的情况，因为没有经典的小脑体征。该患者的震颤特征与ET患者的震颤特征在许多方面都不同。
■尽管经常被比作ET，在仔细审查下，在该SCA12患者中观察到的震颤特征与ET中常见的震颤特征不一致.这种差异凸显了对震颤疾病进行仔细表型分析的必要性，特别是在家族案件中。认识到SCA12的特定震颤现象学并将其与ET区分开来对于避免误诊并指导适当的管理和家庭咨询至关重要。
■本报告详细描述了早期SCA12患者最初被误诊为特发性震颤，强调在非典型震颤病例中进行细致的临床评估和基因检测的重要性。类似的患者应精心表型，以防止错误分类并增强我们对震颤病理生理学的了解。
