Cerebral palsy (CP) is a clinical diagnosis and was long categorized as an acquired disorder, but more and more genetic etiologies are being identified. This review aims to identify the clinical characteristics that are associated with genetic CP to aid clinicians in selecting candidates for genetic testing. The PubMed database was systematically searched to identify genes associated with CP. The clinical characteristics accompanying these genetic forms of CP were compared with published data of large CP populations resulting in the identification of potential indicators of genetic CP. Of 1930 articles retrieved, 134 were included. In these, 55 CP genes (described in two or more cases, n = 272) and 79 candidate genes (described in only one case) were reported. The most frequently CP-associated genes were (21 cases), (17 cases), and (13 cases). Dyskinesia and the absence of spasticity were identified as strong potential indicators of genetic CP. Presence of intellectual disability, no preterm birth, and no unilateral distribution of symptoms were classified as moderate genetic indicators. Genetic causes of CP are increasingly identified. The clinical characteristics associated with genetic CP can aid clinicians regarding to which individual with CP to offer genetic testing. The identified potential genetic indicators need to be validated in large CP cohorts but can provide the first step toward a diagnostic algorithm for genetic CP.

中文翻译：

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提示脑瘫遗传原因的临床特征：系统评价

脑瘫 (CP) 是一种临床诊断，长期以来被归类为后天性疾病，但越来越多的遗传病因正在被发现。本综述旨在确定与遗传性 CP 相关的临床特征，以帮助临床医生选择基因检测的候选者。系统地搜索了 PubMed 数据库来识别与 CP 相关的基因。将伴随这些遗传形式的 CP 的临床特征与大量 CP 群体的已发表数据进行比较，从而鉴定出遗传性 CP 的潜在指标。在检索到的 1930 篇文章中，收录了 134 篇。其中，报告了 55 个 CP 基因（在两个或多个案例中描述，n = 272）和 79 个候选基因（仅在一个案例中描述）。最常见的 CP 相关基因是（21 例）、（17 例）和（13 例）。运动障碍和无痉挛被认为是遗传性 CP 的重要潜在指标。存在智力障碍、无早产、无单侧症状分布被列为中度遗传指标。CP 的遗传原因越来越多地被确定。与遗传性 CP 相关的临床特征可以帮助临床医生确定哪些 CP 患者需要提供基因检测。确定的潜在遗传指标需要在大型 CP 队列中进行验证，但可以为遗传性 CP 诊断算法提供第一步。