Detection method of intracranial inclusion body disease

摘要

Problem to be solved: to provide a novel method for detecting the abnormal elongation of the repetitive sequence in the notch2nlc gene which is the genetic cause of intracerebral inclusion body disease.The present inventors have developed a detection method that can easily detect whether or not the repeat sequence existing in the 5 'untranslated region of the exch2 NLC gene is abnormal elongation by repeat primed PCR using a specific primer mix as a result of an acute study It was found that the number of repetitions of triplet was easily calculated by fluorescence amplicon length analysis.In addition, the GGA repeat sequence is extended in the niid patient with the dementia symptom in the idiopathic extension of the GGC repetition in the niid patient with the muscle force lowering as the main symptom in the niid patient who is the primary symptom of the dementia, and it is expanded It was also found that the main symptom can be judged based on the extension of the GGA repetitive sequence.Diagram