医学遗传学是衔接医学基础课程和临床课程的桥梁课程，教学内容复杂、知识点抽象，传统的纯讲授式教学易造成学生理解困难，降低学习兴趣，教学效果不佳。在教学中引入典型案例可以将遗传学理论具象化，增强学生的直观感受，便于学生理解抽象知识点，提升学习兴趣。遗传性痉挛性截瘫（hereditary spastic paraplegias，HSP）是一组以双下肢进行性痉挛性截瘫为特征的遗传性神经系统疾病。作为单基因病，遗传性痉挛性截瘫具有高度遗传异质性，已发现了80余个致病基因，涵盖常染色体显性遗传、常染色体隐性遗传、X连锁隐性遗传等多种遗传方式；该病已被纳入我国《第一批罕见病目录》，患者及高危家系的遗传咨询需求日益凸显，通常需结合基因检测技术完成产前诊断与鉴别诊断。围绕遗传性痉挛性截瘫进行案例教学可以全面覆盖医学遗传学课程中的核心知识点，帮助学生建立“临床表型→家系分析→遗传病诊断→发病风险评估”的完整临床遗传思维。基于这一教学理念，本教学团队围绕遗传性痉挛性截瘫的遗传学特征进行教学素材挖掘，整合致病基因、突变效应、发病机制、遗传模式、基因诊断及临床治疗等内容，构建了串珠式的一体化案例式教学框架，并将其贯穿医学遗传学教学的全过程，将抽象的遗传学理论教学转化为直观的案例教学，激发了学生的学习兴趣，提升了学生对遗传病相关知识的理解力。这一教学模式改革促成了遗传学基础理论和临床应用的有效整合，促进了医学生临床思维与科研素养的养成，为医学遗传学教学实践提供了一条新路径。

Medical genetics serves as a bridge between basic medical science and clinical courses. With its complex curriculum and abstract concepts, traditional lecture-based teaching often leads to difficulties in comprehension, diminishes students’ interest in learning, and results in poor teaching outcomes. Incorporating typical case studies into instruction can make genetic theories more tangible, enhance students’ intuitive understanding, facilitate their grasp of abstract concepts, and boost their interest in learning. Hereditary spastic paraplegia (HSP) is a group of hereditary neurological disorders characterized by progressive spastic paraplegia of both lower limbs. As a monogenic disorder, hereditary spastic paraplegia exhibits high genetic heterogeneity. To date, more than 80 distinct disease-causing genes have been identified, encompassing various inheritance patterns such as autosomal dominant, autosomal recessive, and X-linked recessive inheritance; Hereditary spastic paraplegia has been included in China’s first batch of rare disease listings, creating a need for genetic counseling. Prenatal diagnosis and differential diagnosis typically require integration with genetic testing. Case-based teaching focused on hereditary spastic paraplegia can comprehensively cover the core concepts of medical genetics and help students develop a complete clinical genetic reasoning process from clinical phenotype to family analysis, genetic diagnosis, and risk assessment. Based on this educational philosophy, members in our teaching team explored teaching materials focusing on the genetic characteristics of HSP, including disease genes, genetic effect of mutation, pathogenesis, inheritance patterns, genetic diagnosis, and clinical treatment to construct a comprehensive, integrated case-based teaching framework and incorporated it throughout the teaching practice of medical genetics. Teachers implemented this instructional design in their medical genetics courses, transforming abstract theoretical instruction into accessible case-based teaching, which stimulated students’ interest in learning and enhanced their ability to understand theories related to genetic diseases. This teaching reform facilitated the effective integration of genetic knowledge with clinical applications, fostered the development of clinical reasoning and research literacy among medical students, and provided an innovative method for medical genetics teaching.