We identified GDAP1 variants in approximately 1% of our cohort with IPNs, and established a founder mutation in half of these patients. Our study originally described the mutational spectrum and clinical features of GDAP1-related CMT patients in Japan.

Objectives: This study aimed to report the clinical profiles of patients with short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing (SUNCT)/short-lasting unilateral neuralgiform headache attacks with cranial autonomic (SUNA) in a Japanese population by surveying those enrolled at a regional headache center in Japan. Methods:In this consecutive case series study, the clinical characteristics of patients with SUNCT (eight men, three women; mean age: 59.5 + 20.5 years) and SUNA (five men, four women; mean age: 51.3 + 18.4 years) who visited Tominaga Hospital from February 2011 to January 2017 were examined. Headaches were diagnosed according to the International Classification of Headache Disorders, Third edition (ICHD-3) guidelines.Results: Brief clusters of separate attacks were reported by all patients. The mean duration of attacks was 91.9 + 87.9 s. Ipsilateral rhinorrhea was observed in 9 of 20 (45.0%) cases and facial sweating was observed in 1 of 20 (5.0%) cases. An eminent response to lamotrigine was observed in 9 of 9 (100%) patients; however, adverse events were only reported in 2 of 9 (22.2%) cases. An intravenous infusion of lidocaine was demonstrated to be completely successful for short-term prevention in 5 of 6 (83.3%) SUNCT cases.Conclusions: Lamotrigine can successfully treat most patients, and intravenous lidocaine is useful for the short-term preventive therapy of severe recalcitrant attacks in Japanese patients with SUNCT/SUNA.

Background Misdiagnoses of headache disorders are a serious issue. Therefore, we developed an artificial intelligence-based headache diagnosis model using a large questionnaire database in a specialized headache hospital. Methods Phase 1: We developed an artificial intelligence model based on a retrospective investigation of 4000 patients (2800 training and 1200 test dataset) diagnosed by headache specialists. Phase 2: The model’s efficacy and accuracy were validated. Five non-headache specialists first diagnosed headaches in 50 patients, who were then re-diagnosed using AI. The ground truth was the diagnosis by headache specialists. The diagnostic performance and concordance rates between headache specialists and non-specialists with or without artificial intelligence were evaluated. Results Phase 1: The model’s macro-average accuracy, sensitivity (recall), specificity, precision, and F values were 76.25%, 56.26%, 92.16%, 61.24%, and 56.88%, respectively, for the test dataset. Phase 2: Five non-specialists diagnosed headaches without artificial intelligence with 46% overall accuracy and 0.212 kappa for the ground truth. The statistically improved values with artificial intelligence were 83.20% and 0.678, respectively. Other diagnostic indexes were also improved. Conclusions Artificial intelligence improved the non-specialist diagnostic performance. Given the model’s limitations based on the data from a single center and the low diagnostic accuracy for secondary headaches, further data collection and validation are needed.

Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a genetic disorder of fatty acid beta oxidation that is caused by a defect in ACADVL , which encodes VLCAD. The clinical presentation of VLCAD deficiency is heterogeneous, and either a delayed diagnosis or a misdiagnosis may sometimes occur. We herein describe a difficult-to-diagnose case of the muscle form of adult-onset VLCAD deficiency with compound heterozygous ACADVL mutations including c.790A>G (p.K264E) and c.1246G>A (p.A416T).

Background Tension-type headaches and migraines are prevalent conditions; however, no reliable biological markers have been identified for screening. A validated screening tool for epidemiological studies would aid in carrying out large-scale epidemiological studies. Therefore, there is a need to develop a screening tool in the Japanese language based on the International Classification of Headache Criteria, which can be used in epidemiological studies. In this study, we aimed to develop a Japanese-language tool that can be used to screen patients for migraine, tension-type headaches, and mixed migraine/tension-type headaches. Consequently, our objective was to develop a questionnaire based on the 3rd edition of the International Classification of Headache Disorders (ICHD-3) using screening items for each type of headache and to examine its validity. Methods The questionnaire consisted of 29 questions based on the ICHD-3 diagnostic criteria. It comprised 10 screening items for migraine, eight for tension-type headache, and five for mixed migraine/tension-type headache. The screening results of the questionnaire were compared with the diagnoses of three neurologists, which were used as the gold standard reference. Results The study population comprised 69 patients (mean age ± standard deviation, 55.0 ± 18.7 years) aged 19–89 years who were visiting the Tominaga Hospital of the Kotobukai Social Medical Corporation. According to the neurologists’ diagnoses, twenty-two patients had migraine, 30 had tension-type headaches, and 17 had mixed migraine/tension-type headaches. The sensitivity and specificity were as follows: migraine, 72.7% and 86.7%; tension-type headache, 50.0% and 86.4%; and mixed migraine/tension-type headache, 70.6% and 67.3%, respectively. Conclusions The screening tool developed in this study has sufficient validity except for tension-type headache. The questionnaire developed in this study is a rapid and sensitive tool for determining migraine, tension-type headache, and mixed migraine/tension-type headache in persons with headache symptoms.