A group of Professor Masatoyo Nishizawa and Professor Ken Ikeuchi of Niigata University extracted common features by analyzing images of HDLS (hereditary diffuse leukoencephalopathy with axonal spheroid formation), which is the cause of juvenile dementia. I succeeded in doing it.Furthermore, we proposed this as the world's first diagnostic standard for HDLS.
HDLS is one of the causative diseases of juvenile dementia that develops before the age of 65, and it has been difficult to diagnose until now. Since the discovery of the causative gene in 2012, it has become possible to make a diagnosis by genetic analysis, but it has not been easy to make a diagnosis in clinical practice.Therefore, it was desired to formulate diagnostic criteria.
In this study, the characteristics of HDLS were extracted by analyzing images of 24 cases analyzed so far and 77 cases obtained from the literature.Furthermore, based on these characteristics, we have formulated a draft diagnostic standard consisting of major items such as age of onset, clinical symptoms, genes, support items, and exclusion items.Using this criterion, it was possible to make a diagnosis with a probability of 95% or more.We also showed that it is possible to distinguish from other encephalopathy with a high probability.From these results, it is considered that the draft standard will greatly contribute to the clinical diagnosis of HDLS.
HDLS is one of the relatively common juvenile dementia in Japan, and if the chances of being diagnosed correctly by using this standard increase, it is expected that research will proceed toward pathological elucidation and treatment method development.In addition, there are problems such as the low social and economic burden on patients and their families due to their low awareness, and the lack of a medical treatment environment.The establishment of diagnostic criteria will raise awareness and help solve these social problems.
