Bird Thomas D, Smith Corrie O
Department of Neurology, University of Washington, Seattle, WA, United States; Geriatric Research Center, VA Medical Center, Seattle, WA, United States.
Department of Neurology, University of Washington, Seattle, WA, United States.
Handb Clin Neurol. 2018;147:3-9. doi: 10.1016/B978-0-444-63233-3.00001-4.
Neurogenetic diseases are surprisingly common. This chapter reviews a systematic approach to the evaluation of a patient thought to have such a disease. The emphasis is on first recognizing potential clues to the diagnosis contained in the family history and presentation of symptoms. Ataxia, neuropathy, muscle weakness, dementia, epilepsy, and cognitive delay are all "reservoirs" of neurogenetic disease. A high index of suspicion for genetic causes and a thoughtful evaluation of simplex (sporadic) cases is often necessary. Then the physician can proceed to the differential diagnosis, genetic testing, and genetic counseling. A team approach including a genetic counselor is usually the best strategy.
神经遗传疾病出奇地常见。本章回顾了一种系统性方法，用于评估疑似患有此类疾病的患者。重点是首先识别家族史和症状表现中包含的潜在诊断线索。共济失调、神经病变、肌肉无力、痴呆、癫痫和认知迟缓都是神经遗传疾病的“蓄水池”。对于遗传病因保持高度怀疑指数，并对单发病例（散发病例）进行深入评估往往是必要的。然后医生可以进行鉴别诊断、基因检测和遗传咨询。包括遗传咨询师在内的团队协作方法通常是最佳策略。
