认知能力下降和其他晚期神经系统并发症可卡因综合征
Geetanjali Rajamani1, Seth A Stafki1, Audrey L Daugherty1
1University of Minnesota Medical School (GR); Greg Marzolf Jr. Muscular Dystrophy Center (SAS, ALD, HRL, CCB, CAP, PBK); Department of Neurology (SAS, ALD, WGM, HRL, CCB, CAP, PBK), University of Minnesota Medical School; Institute on the Biology of Aging and Metabolism (PDR, LJN), University of Minnesota, Minneapolis; Clinical Genetics (AA, PG, SM), Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom; Department of Pediatric Neurology/Centre d'investigation Clinique (CIC) (VL), Strasbourg University Hospital, France; and Institute for Translational Neuroscience (PBK), University of Minnesota, Minneapolis.
考凯恩综合征 (CS) 是一种过早衰老的疾病. 患有CS的成年人经常经历神经认知衰退和神经症状,这表明受损基因组维护作为潜在的治疗点.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 罕见疾病 罕见疾病
背景情况:
- 卡凯恩综合征 (CS) 是一种罕见的遗传疾病,导致过早衰老和严重的神经退行.
- 成年CS患者神经退行症的临床特征尚不清楚.
研究的目的:
- 描述科凯恩综合征的成年患者神经退行症的临床特征.
- 调查CS患者在18年后生存的神经复杂症的频率和类型.
主要方法:
- 在三个国际中心进行了回顾性观察研究.
- 对神经系统并发症的医疗记录进行分析,包括认知能力下降,,神经病变,和中风.
- 对脑缩和白质变化的神经成像数据 (MRI) 的审查.
主要成果:
- 几乎所有成年CS患者 (94.4%) 呈现神经认知/神经精神衰退.
- 震和外围神经病变是常见的;发作和中风较少发生.
- 步行性动是普遍的,MRI显示大脑缩 (85.7%) 和白质变化 (78.6%).
结论:
- 神经认知/神经精神衰退是成年CS患者近乎普遍的特征.
- 基因组维护受损可能是CS和其他神经退行性疾病的神经认知衰退的基础.
- DNA损伤反应途径代表了CS相关的神经症状的潜在治疗点.
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