Genetics of neurodegenerative diseases: an overview.

摘要: Genetic factors are central to the etiology of neurodegeneration, both as monogenic causes heritable disease and modifiers susceptibility complex, sporadic disorders. Over last two decades, identification genes risk loci has led some greatest advances in medicine invaluable insights into pathogenic mechanisms pathways. Large-scale research efforts, novel study designs, methodology rapidly expanding our understanding genome genetic architecture neurodegenerative disease. Here, we review major developments field date, highlighting overarching historic trends general insights. Monogenic diseases discussed from perspectives rare Mendelian forms common disorders, such Alzheimer Parkinson disease, heterogeneous conditions, including ataxias spastic paraplegias. Next, summarize experiences investigations complex genomewide association studies. In final section, reflect upon limitations current findings outline important future directions. Genetics plays an essential role translational research, ultimately aiming develop disease-modifying therapies for We anticipate that individual profiling will also be increasingly relevant a clinical context, with implications patient care line proposed ideal personalized medicine.