Pay attention to repeat expansion mutation related neurogenetic diseases / 中华神经科杂志

ABSTRACT

Repeat expansion diseases (REDs), which include Huntington disease, spinocerebellar ataxia and fragile X syndrome, are important part of the neurogenetic diseases. REDs are caused by expansions of sequence repeats in the human genome. The REDs spectrum expanded rapidly with the advances of technology regarding molecular genetics in recent years. Although rare, these genetic disorders can be frequently met by neurologists. This article introduces the definition, classification, diagnosis and new progresses in treatment of REDs based on the most recent research findings.