Goldberg Allon, Curtis Catherine L, Kleim Jeffrey A
Physical Therapy Department, School of Health Professions and Studies, University of Michigan-Flint, Flint (AG); Department of Physical Therapy, School of Health Sciences & Practice, Institute of Public Health, New York Medical College, Valhalla (CLC); and School of Biological and Health Systems Engineering, Arizona State University, Tempe (JAK).
J Neurol Phys Ther. 2015 Jan;39(1):52-61. doi: 10.1097/NPT.0000000000000066.
Large-scale genomics projects such as the Human Genome Project and the International HapMap Project promise significant advances in the ability to diagnose and treat many conditions, including those with a neurological basis. A major focus of research has emerged in the neurological sciences to elucidate the molecular and genetic basis of various neurological diseases. Indeed, genetic factors are implicated in susceptibility for many neurological disorders, with family history studies providing strong evidence of familial risk for conditions such as stroke, Parkinson's, Alzheimer's, and Huntington's diseases. Heritability studies also suggest a strong genetic contribution to the risk for neurological diseases. Genome-wide association studies are also uncovering novel genetic variants associated with neurological disorders. Whole-genome and exome sequencing are likely to provide novel insights into the genetic basis of neurological disorders. Genetic factors are similarly associated with clinical phenotypes such as symptom severity and progression as well as response to treatment. Specifically, disease progression and functional restoration depend, in part, on the capacity for neural plasticity within residual neural tissues. Furthermore, such plasticity may be influenced in part by the presence of polymorphisms in several genes known to orchestrate neural plasticity including brain-derived neurotrophic factor (BDNF) and Apolipoprotein E. (APOE). It is important for neurorehabilitation therapist practicing in the "genomic era" to be aware of the potential influence of genetic factors during clinical encounters, as advances in molecular sciences are revealing information of critical relevance to the clinical rehabilitation management of individuals with neurological conditions. Video Abstract available (See Video, Supplemental Digital Content 1, http://links.lww.com/JNPT/A88) for more insights from the authors.
诸如人类基因组计划和国际人类基因组单体型图计划等大规模基因组学项目有望在诊断和治疗多种病症（包括那些具有神经学基础的病症）的能力方面取得重大进展。神经科学领域已出现一个主要研究重点，即阐明各种神经疾病的分子和遗传基础。事实上，遗传因素与许多神经疾病的易感性有关，家族史研究为中风、帕金森病、阿尔茨海默病和亨廷顿病等病症的家族风险提供了有力证据。遗传力研究也表明遗传因素对神经疾病风险有很大影响。全基因组关联研究也在揭示与神经疾病相关的新遗传变异。全基因组和外显子组测序可能会为神经疾病的遗传基础提供新的见解。遗传因素同样与症状严重程度和进展以及治疗反应等临床表型有关。具体而言，疾病进展和功能恢复部分取决于残余神经组织内神经可塑性的能力。此外，这种可塑性可能部分受到已知调控神经可塑性的几个基因（包括脑源性神经营养因子（BDNF）和载脂蛋白E（APOE））中多态性的影响。对于在“基因组时代”执业的神经康复治疗师来说，在临床接触过程中了解遗传因素的潜在影响很重要，因为分子科学的进展正在揭示与神经疾病患者临床康复管理密切相关的信息。可获取视频摘要（见视频，补充数字内容1，http://links.lww.com/JNPT/A88），以获取作者更多见解。
