| 摘要 |
PROBLEM TO BE SOLVED: To provide a new means by which nodding spasm accompanying disorder of the cerebral white matter can be diagnosed.SOLUTION: The method for detecting the nodding spasm accompanying the disorder of the cerebral white matter is applied to a sample separated from a living body, and uses the result of whether an SPTAN1 gene is deficient or not, and/or whether a gene encoding abnormal SPTAN1 is present or not, as an index. As a result, the diseases including the disease in a type not diagnosed by a biochemical inspection such as PEHO syndrome can determinately and genetically be diagnosed, and the individualization and optimization of the therapy including the gene therapy are expected. |
