Migraine is a common clinical primary headache with unclear aetiology. In recent years, studies have shown that migraine is related to right-to-left shunts (RLS), and some patients with migraine have white matter lesions. However, the relationship among the three is unclear. To explore the characteristics of white matter lesions (WMLs) in migraine patients with right-to-left shunts and to predict the presence of right-to-left shunts through magnetic resonance imaging (MRI) characteristics in patients with migraine, we conducted a retrospective study. We enrolled 214 patients who were diagnosed with migraines in an outpatient clinic from January 2019 to December 2021. All of them had completed contrast transcranial Doppler ultrasound (cTCD) and magnetic resonance imaging (MRI) examination. Through the inclusion and exclusion criteria, 201 patients were finally included. The patients were grouped according to the presence of WMLs and were compared by age, sex, hypertension, diabetes, RLS, and other characteristic data. We observed the MRI fluid attenuation inversion recovery sequence (FLAIR) image and compared the differences in WMLs between the RLS-positive group and the RLS-negative group. There were 71 cases and 130 cases of migraine with and without WMLs, respectively. A statistically significant difference in near-cortical WMLs with RLS in migraine patients was observed (p = 0.007). Logistic regression analysis was adjusted by age, sex, duration of migraine, and severity. Migraine with aura and family history identified the RLS status as the sole determinant for the presence of near-cortical WMLs (OR = 2.69; 95%CI 1.386–5.219; p = 0.003). Near-cortical white matter lesions in migraine patients are related to RLS, especially in the blood supply area of the anterior cerebral artery. This small demyelination of the near-cortical WMLs may be a potential marker for the right-to-left shunt of the heart. Transcranial Doppler ultrasonography may help finding more RLS in migraineurs with near-cortical WMLs.

GGC repeat expansions in the 5’ untranslated region (5’UTR) of the Notch Homolog 2 N-terminal-like C gene (NOTCH2NLC) have been reported to be the genetic cause of neuronal intranuclear inclusion disease (NIID). However, whether they exist in other neurodegenerative disorders remains unclear. To determine whether there is a medium-length amplification of NOTCH2NLC in patients with amyotrophic lateral sclerosis (ALS), we screened 476 ALS patients and 210 healthy controls for the presence of a GGC repeat expansion in NOTCH2NLC by using repeat-primed polymerase chain reaction (RP-PCR) and fragment analysis. The repeat number in ALS patients was 16.11 ± 5.7 (range 7–46), whereas the repeat number in control subjects was 16.19 ± 3.79 (range 10–29). An intermediate-length GGC repeat expansion was observed in two ALS patients (numbers of repeats: 45, 46; normal repeat number ≤ 40) but not in the control group. The results suggested that the intermediate NOTCH2NLC GGC repeat expansion was associated with Chinese ALS patients, and further functional studies for intermediate-length variation are required to identify the mechanism.

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Previous studies have found that migraine patients are associated with white matter lesions (WMLs), but the causal relationship between the two remains unclear. We intend to explore the bidirectional causal relationship between migraine and WMLs using a two-sample mendelian randomization (MR) method. We employed summary-level data from a recent large-scale genome-wide association study (GWAS) that characterized three white matter (WM) phenotypes: white matter hyperintensities (WMH, N = 18,381), fractional anisotropy (FA, N = 17,673), and mean diffusivity (MD, N = 17,467), as well as migraine (N = 589,356). The inverse variance-weighted (IVW) method was used as the main approach for analyzing causality. Weighted median analysis, simple median analysis, and MR-Egger regression served as complementary methods. The bidirectional MR study affords no support for causality between WMLs and migraine. In all MR methods, there was no obvious causal evidence between them. In our bidirectional MR study, we didn't reach this conclusion that WMLs can cause migraine, migraine wouldn’t increase the risk of WMLs, either.

Background Migraine is a common clinical primary headache with unclear aetiology. In recent years, studies have shown that migraine is related to patent foramen ovale, and some patients with migraine have white matter lesions. However, the relationship among the three is unclear.Objective To explore the characteristics of white matter lesions (WMLs) in migraine patients with patent foramen ovale and to predict the occurrence of patent foramen ovale through magnetic resonance imaging (MRI) characteristics in patients with migraine.Methods Seventy-seven patients clinically diagnosed with migraine were examined by transcranial Doppler ultrasound (cTCD) and MRI. The patients were grouped according to the presence of WMLs, with matching by age, sex, hypertension, diabetes, PFO and other characteristic data. We observed the MRI fluid attenuation inversion recovery sequence (FLAIR) image and compared and analysed the difference in WMLs between the PFO-positive group and the PFO-negative group.Results There were 42 cases and 35 cases of migraine with and without WMLs, respectively. A statistically significant difference in near-cortical WMLs with PFO in migraine patients was observed (P=0.001). Logistic regression analysis adjusted by age, sex, hypertension and diabetes identified PFO status as the sole determinant for the presence of near-cortical WMLs (OR = 0.14; 95%CI 0.045–0.421; p < 0.001)Conclusion Near-cortical white matter lesions in migraine patients are related to PFO. Transcranial Doppler ultrasonography may reveal more PFO in patients with migraine and near-cortical WMLs.