【】Objective In order to deepen the doctors’ understanding of Cerebrotendinous xanthomatosis(CTX),the writer analyzed the clinical characteristics of 19 Chinese patients who were diagnosed of CTX. Method By consulting the databases such as CNKI in China and then combining a confirmed case in our hospital, a retrospective analysis of onset age, age of diagnosis, clinical manifestation, CMRI, pathology, gene and biochemistry of 19 Chinese patients diagnosed of CTX was made. Result 19 patients from 17 families were enrolled. Their average diagnosis interval was as long as 17 years. Walking unstable, mental retardation and memory deterioration are the main neurological symptoms, and the primary non-neurological symptoms were bilateral Achilles tendon boss and cataract. Conclusion This is the first time to analyze the Chinese patients’ clinical characteristics of CTX. The doctor should pay attention to CTX and improve diagnosis and anti-diastole levels, because its average diagnosis interval is so long.