Immediate and 6-month seizure outcomes following first and second SARS-CoV2 mRNA vaccinations: A multicenter study with a nationwide survey.

OBJECTIVE: This study aimed to identify seizure outcomes in people with epilepsy (PWE) following severe acute respiratory syndrome coronavirus 2 (SARS-CoV2) messenger RNA vaccination. METHODS: We examined PWE (n = 332, age ≥ 14 years) treated in four tertiary hospitals between 2021 and 2022 to assess the incidence of seizure worsening following vaccination using closed questions. We identified the clinical factors associated with worsening and 6-month vaccination outcomes. We also conducted a nationwide survey on self-reported seizure worsening using open questions, to which 261 general practitioners from 99 institutes contributed. RESULTS: Of the 282 PWE vaccinated in the four hospitals, 16 (5.7%) exhibited seizure worsening; most of them emerged within 48 h of vaccination and were not sustained. Thus, all PWE were at baseline condition 6 months after their vaccination. PWE with seizure worsening were more significantly associated with focal impaired awareness seizures (p < 0.001), high seizure frequency (p = 0.025), and drug-resistant epilepsy (p = 0.007) at baseline compared to PWE without worsening. Multivariate logistic regression analysis revealed that focal impaired awareness seizures were independently associated with worsening (odds ratio, 7.0; 95% confidence interval, 1.50-32.77). A nationwide survey of 5156 PWE data (real-world data) confirmed an extremely low incidence rate of self-reported seizure worsening (0.43%). SIGNIFICANCE: Some PWE, particularly refractory focal epilepsy, exhibit seizure worsening. However, the worsening events were infrequent, non-sustainable, and probably under-reported by PWE, suggesting that there is little evidence that worsening seizures discourage current and future vaccinations.

Impact of anatomical variations on ultrasonographic reference values of lower extremity peripheral nerves.

INTRODUCTION/AIMS: Cross-sectional area (CSA) reference values using ultrasonography vary widely for lower extremity peripheral nerves. In addition, there is a lack of data on the muscular branches of the tibial nerve and the anatomical variations of the sural nerve. We aimed to evaluate the ultrasonographic reference values for lower extremity peripheral nerves considering different anatomical variations and physical factors. METHODS: The CSA of the lower extremity nerve was measured at 10 sites. In addition to establishing reference values, differences in the CSA owing to anatomical variations were verified. The relationship between CSA and physical factors, such as age, height, weight, body mass index, and ankle circumference, was also examined. RESULTS: A total of 100 healthy Japanese volunteers were recruited. The mean CSA of the sural nerve significantly differed depending on its formation pattern (1.4-1.8 mm2 ). The mean decreases in CSAs from the proximal to distal tibial and fibular nerves within the popliteal region significantly differed based on the fine branching pattern. The maximum value of the mean decreases in CSAs in the tibial and fibular nerves reached 7.2 and 2.5 mm2 , respectively. With respect to physical factors, age and ankle circumferences were associated with CSA at several measurement sites. DISCUSSION: Fine branching from the tibial and fibular nerves and sural nerve formation may affect CSA measurements. The establishment of accurate CSA reference values requires consideration of anatomical variations in the peripheral nerves of the lower extremity.

Intravenous immunoglobulin for maintenance treatment of multifocal motor neuropathy: A multi-center, open-label, 52-week phase 3 trial.

Intravenous immunoglobulin (IVIg) therapy is currently the only established treatment in patients with multifocal motor neuropathy (MMN), and many patients have an IVIg-dependent fluctuation. We aimed to investigate the efficacy and safety of every 3 week IVIg (1.0 g/kg) for 52 weeks. This study was an open-label phase 3 clinical trial, enrolling 13 MMN patients. After an induction IVIg therapy (0.4 g/kg/d for 5 consecutive days), maintenance dose (1.0 g/kg) was given every 3 weeks for 52 weeks. The major outcome measures were the Medical Research Council (MRC) sum score and hand-grip strength at week 52. This trial is registered with ClinicalTrials.gov, number NCT01827072. At week 52, 11 of the 13 patients completed the study, and all 11 had a sustained improvement. The mean (SD) MRC sum score was 85.6 (8.7) at the baseline, and 90.6 (12.8) at week 52. The mean grip strength was 39.2 (30.0) kPa at the baseline and 45.2 (32.8) kPa at week 52. Two patients dropped out because of adverse event (dysphagia) and decision of an investigator, respectively. Three patients developed coronary spasm, dysphagia, or inguinal herniation, reported as the serious adverse events, but considered not related with the study drug. The other adverse effects were mild and resolved by the end of the study period. Our results show that maintenance treatment with 1.0 g/kg IVIg every 3 week is safe and efficacious for MMN patients up to 52 weeks. Further studies are required to investigate optimal dose and duration of maintenance IVIg for MMN.

Antithrombotic Therapy Strategy for Cancer-Associated Ischemic Stroke: A Case Series of 26 Patients.

BACKGROUND: The risk of complications from thromboembolism is increased for patients with malignancy. Cancer-associated stroke is also a serious issue with regard to the management of patients with cancer because stroke incidence often causes disabilities that affect daily life and cancer treatment strategy. METHODS: Between March 2011 and September 2017, 328 patients with acute ischemic stroke were registered to our hospital. RESULTS: Of these patients, 26 (7.9%) had a cancer-associated stroke diagnosis, namely, Trousseau syndrome. After ischemic stroke onset, malignancy treatment was changed to palliative treatment for 11 patients. Eighteen patients died 1 year after ischemic stroke onset, and 15 of these patients underwent cancer treatment according to the best supportive care policy. Of those who died, 8 underwent anticoagulation therapy. We described the clinical courses of 3 cases among 26 cases with Trousseau syndrome. Two cases took direct oral anticoagulants (DOACs) due to cancer-associated venous thromboembolism before stroke onset, and there has been no stroke recurrence with subcutaneous unfractionated heparin. In the third case, when cancer activity was suppressed, we changed DOACs from subcutaneous unfractionated heparin and continued DOACs without thromboembolic events. CONCLUSIONS: There is insufficient evidence regarding cases for which DOACs would be suitable for the prevention of thromboembolism and regarding its long-term efficacy and safety in patients with cancer. As it stands, heparin treatment, which has multifaceted antithrombotic actions, may be suitable for cancer-associated stroke prevention.

Warfarin-Resistant Deep Vein Thrombosis during the Treatment of Acute Ischemic Stroke in Lung Adenocarcinoma.

CASE REPORT: A 66-year-old man with acute ischemic stroke in the setting of lung adenocarcinoma developed acute-onset deep vein thrombosis (DVT) of the lower limbs after changing to warfarin from a heparin combination. The diagnosis of warfarin-resistant DVT was established based on the laboratory data and clinical evaluation. Heparin administration resulted in good control of thrombin regulation. Cancer patients are at high risk of venous thromboembolism, and the combination of these 2 conditions is known as Trousseau's syndrome. CONCLUSION: Our report suggests that heparin administration may provide good control of thromboembolic events, although there is no established medical treatment to extend the survival of patients with Trousseau's syndrome.

Insights from the ganglionic acetylcholine receptor autoantibodies in patients with Sjögren's syndrome.

OBJECTIVE: It is not known whether autonomic neuropathy is a feature of Sjögren's syndrome (SS) or whether it is related to circulating antiganglionic acetylcholine receptor (gAChR) antibodies. The goal of the present study was to investigate the autonomic dysfunction in patients with SS and the associations between autonomic dysfunction, anti-gAChR antibodies, and clinical features of SS. METHODS: (1) The first observational study tested for the presence of gAChR antibodies in the serum samples from 39 patients with SS (absent information regarding autonomic symptoms) and healthy volunteers. (2) In the second study, serological and clinical data from 10 Japanese patients diagnosed with SS were reviewed. These patients showed autonomic dysfunction, and luciferase immunoprecipitation systems (LIPS) test was conducted to detect anti-α3 and anti-ß4 gAChR antibodies. (3) In the final analysis, we combined the data of seropositive SS patients with autonomic symptom from the first study with all of the patients from the second study, and analyzed the clinical features. RESULTS: (1) The LIPS assay revealed that anti-gAChRα3 and anti-gAChRß4 antibodies were detected in the sera from patients with SS (23.1%, 9/39). Five of nine SS patients had autonomic symptoms. (2) Anti-α3 and anti-ß4 gAChR antibodies were also detected in 80.0% (8/10) of patients with SS with autonomic symptoms. Six of the ten patients were diagnosed as having SS after neurological symptoms developed. These seropositive patients had predominant and severe autonomic symptoms and were diagnosed with autonomic neuropathy. (3) Thirteen of fifteen SS patients with autonomic symptoms (86.7%) were seropositive for anti-gAChR antibodies, and we confirmed sicca complex, orthostatic hypotension, upper and lower gastrointestinal (GI) symptoms, and bladder dysfunction at high rates. CONCLUSION: The present results suggest the possibility of anti-gAChR antibodies aiding the diagnostics of SS with autonomic dysfunction.

Deviation in the recovery of the lower limb and respiratory muscles of patients with polymyositis: a preliminary clinical study.

[Purpose] The purposes of this study were to quantify the serial changes in lower limb and respiratory muscle strengths and to evaluate the acute effects of physiotherapy in polymyositis patients. [Subjects and Methods] Five patients (57.6 ± 9.0 years, 50 to 72; four females) received physiotherapy five days a week for four weeks. The lower limb and respiratory muscle strength, the % vital capacity, and the Barthel index were evaluated at baseline and after the intervention. [Results] The patient's symptoms and creatine kinase values did not change, and after four weeks, all of the patients exhibited significantly increased outcomes compared with the baseline. However, the inspiratory muscle strength of the patients presented smaller improvements than the expiratory muscle strength. [Conclusion] Differential changes in inspiratory and expiratory muscle strength were observed following physiotherapy, and an unbalanced muscle distribution may explain the pathological and therapeutic effects.

A Case of Recurrent Ischemic Stroke Involving Subacute, Progressive Intracranial Cerebral Arterial Sclerosis Prior to Diagnosis with JAK2-mutated Polycythemia Vera.

CASE REPORT: A 58-year-old man presenting with no vascular risk factors visited our hospital with right hemiparesis and total aphasia. Diffusion-weighted magnetic resonance imaging of the brain showed multiple hyperintensities in watershed distributions in the left hemisphere. Magnetic resonance angiography (MRA) revealed stenosis of the middle cerebral artery, despite normal MRA findings 2 months prior. One year after the first stroke, the patient experienced a recurrent ischemic stroke involving the left anterior choroidal artery, pulmonary embolism, and deep venous thrombosis. After the recurrent stroke event, hemoglobin levels increased gradually. Two years after the first stroke, a JAK2V-617F mutation was detected. CONCLUSION: Our report suggests that progressive intracranial arterial sclerosis and venous thrombosis of undetermined etiologies could be several initial symptoms of polycythemia vera.

CD34+/CD144+ circulating endothelial cells as an indicator of carotid atherosclerosis.

BACKGROUND: The relationships between the number of circulating endothelial cells (CECs) or endothelial progenitor cells (EPCs) and indicators of carotid atherosclerosis, such as the intima-media thickness (IMT) and plaque score are not well characterized in patients with chronic ischemic stroke. The objective of this study was to investigate these relationships in patients with chronic ischemic stroke and in patients with risk factors for stroke. METHODS: A total of 58 patients (69.6 ± 10.0 years, 21 females) with chronic ischemic stroke or with risk factors for stroke were included in this study. IMT was measured using an IntimaScope, and the numbers of CECs and EPCs were measured using flow cytometry. CECs and EPCs were defined as CD34+/CD144+ and CD34+/CD133+ cells, respectively. RESULTS: The number of CECs in patients with large artery atherosclerosis was higher than that in patients with cardioembolism or small vessel occlusion (P < .05). In contrast, there were no significant differences in the number of EPCs between groups. A positive correlation was also observed between the plaque score and the number of CECs (r(2) = .139, P < .05, n = 36). Moreover, the number of CECs in patients with moderate and severe atherosclerosis (.32 ± .11/µL, n = 22) was higher than that in patients with no plaque and mild atherosclerosis (.25 ± .07/µL, n = 34, P < .05). CONCLUSIONS: The number of CECs was high in patients with large artery atherosclerosis who experienced chronic ischemic stroke. And this number may reflect severity of carotid atherosclerosis.

Fiber type-specific expression of low-density lipoprotein receptor-related protein 6 in human skeletal muscles.

OBJECTIVE: Gene expression patterns differ in the two types of skeletal muscle fiber. The Wnt signaling pathway, which includes low-density lipoprotein receptor-related protein 6 (LRP6), has been associated with cell differentiation and glucose metabolism in skeletal muscles. We examined the relationships between muscle fiber types and LRP6 expression. METHODS: Adenosine triphosphatase was assayed histochemically, and the levels of expression of LRP6 and myosin were analyzed immunohistochemically, in frozen sections of muscle fiber obtained from 16 muscle biopsy samples. The expression pattern of LRP6 in C2C12 cells was assayed by immunocytochemistry. RESULTS: LRP6 was expressed only in type II fibers. Type IIc fibers showed variations in LRP6 expression. Expression of LRP6 was observed at the stage of myoblast differentiation. CONCLUSION: Antibody to LRP6 may be useful for identifying type II skeletal muscle fibers. LRP6 may influence glucose metabolism in type II fibers of human skeletal muscles.

Diagnostic value of lower extremity ultrasonographic nerve enlargement for differentiating demyelinating Charcot-Marie-Tooth disease from chronic inflammatory demyelinating polyneuropathy.

BACKGROUND AND PURPOSE: We previously reported that nerve enlargement assessment by nerve ultrasonography of the intermediate upper limb is applicable for distinguishing demyelinating Charcot-Marie-Tooth disease (CMT) from chronic inflammatory demyelinating polyneuropathy (CIDP). However, differences in the severity and distribution patterns of lower extremity nerve enlargement have not been established for either disease. Therefore, we examined the utility of lower extremity nerve ultrasonography for differentiating between CMT and CIDP. METHODS: Twelve patients with demyelinating CMT and 17 patients with CIDP were evaluated. The median, ulnar, tibial, and fibular nerves were evaluated in three regions: the distal upper extremity, intermediate upper extremity, and lower extremity. Of the 14 selected screening sites, the number of sites that exhibited nerve enlargement (enlargement site number, ESN) in each region was determined. RESULTS: The screening ESNs in the intermediate region and lower extremities were greater in patients with demyelinating CMT than in patients with CIDP and greater than the ESN in the distal region (p = 0.010, p = 0.001, and p = 0.101, respectively). The ESNs in the intermediate region and lower extremities significantly differed among patients with typical CIDP, CIDP variants, and demyelinating CMT (p = 0.084 and p < 0.001). Among the 14 selected screening sites, the combined upper and lower extremity ESNs exhibited the highest AUC (0.92; p < 0.001). CONCLUSIONS: Combining the upper and lower extremities for ultrasonographic nerve measurement more accurately distinguishes CIDP from demyelinating CMT.

'Raisin bread sign' feature of pontine autosomal dominant microangiopathy and leukoencephalopathy.

Pontine autosomal dominant microangiopathy and leukoencephalopathy is one of hereditary cerebral small vessel diseases caused by pathogenic variants in COL4A1 3'UTR and characterized by multiple small infarctions in the pons. We attempted to establish radiological features of this disease. We performed whole exome sequencing and Sanger sequencing in one family with undetermined familial small vessel disease, followed by clinicoradiological assessment and a postmortem examination. We subsequently investigated clinicoradiological features of patients in a juvenile cerebral vessel disease cohort and searched for radiological features similar to those found in the aforementioned family. Sanger sequencing was performed in selected cohort patients in order to detect variants in the same gene. An identical variant in the COL4A1 3'UTR was observed in two patients with familial small vessel disease and the two selected patients, thereby confirming the pontine autosomal dominant microangiopathy and leukoencephalopathy diagnosis. Furthermore, postmortem examination showed that the distribution of thickened media tunica and hyalinized vessels was different from that in lacunar infarctions. The appearance of characteristic multiple oval small infarctions in the pons, which resemble raisin bread, enable us to make a diagnosis of pontine autosomal dominant microangiopathy and leukoencephalopathy. This feature, for which we coined the name 'raisin bread sign', was also correlated to the pathological changes.

Effect of age on the fractional anisotropy (FA) value of peripheral nerves and clinical significance of the age-corrected FA value for evaluating polyneuropathies.

INTRODUCTION: We investigated the correlation between age and the fractional anisotropy (FA) values of peripheral nerves in healthy adults and compared the age-corrected FA values of peripheral nerves in healthy subjects and patients with polyneuropathy. METHODS: The institutional review board approved this study and informed consent was obtained from all participants before entry into the study. We optimized diffusion tensor imaging using a 3-T magnetic resonance scanner and an extremity coil for scanning tibial nerves. The effect of age and sex on the FA values of tibial nerves in healthy volunteers was investigated and the age-corrected FA values of tibial nerves in healthy volunteers and patients with polyneuropathy were compared. RESULTS: The maximum FA values of the tibial nerves remained constant until age 45 (approximately 0.516); they subsequently decreased by 0.004/year in healthy volunteers. After removing the effect of age with an age-adjusted equation, the median maximum FA values in the volunteers and patients were 0.518 (range, 0.406-0.616) and 0.442 (range, 0.376-0.530), respectively. The age-corrected FA values were significantly lower in the patients than the healthy volunteers (p < 0.001). There was no significant gender-related difference in the maximum FA values of the tibial nerves (p = 0.416). CONCLUSION: The age-corrected FA value of the peripheral nerves helps to differentiate between age-related peripheral nerve degeneration and polyneuropathies.

[The Myasthenia Gravis Activities of Daily Living score and associated factors to distinguish the refractory phase in generalized myasthenia gravis patients with 5 years or more disease duration].

Associated factors of the Myasthenia Gravis Activities of Daily Living (MG-ADL) score were investigated in 55 patients who had had generalized MG for more than 5 years. In multivariate analysis, correlates of the MG-ADL score at the last follow-up were the total number of fast-acting treatments (FTs) (standardized regression coefficient 0.617，P < 0.001) and Myasthenia Gravis Foundation of America (MGFA) classification (standardized regression coefficient 0.227，P = 0.032) (F = 32.7，P < 0.001). In patients with a score of 5 or more on MG-ADL at the last follow-up, tendency as follows were seen: 1) early-onset (P = 0.002), 2) longer duration (P = 0.014), 3) high frequency of MGFA classification V (P = 0.017), 4) high frequency of the total number of FTs (P < 0.001), and 5) higher dose of prednisolone at the last follow-up (P = 0.003). MGFA V, early-onset without depending on E-L-T classification, or difficulty of reduction for high doses of prednisolone can be the target of novel treatment for MG, and future prospective study will be expected.

Compassionate open-label use of rituximab following a randomised clinical trial against neuromyelitis optica (RIN-2 study): B cell monitoring-based administration.

OBJECTIVE: The aim of the RIN-2 study was a compassionate use of rituximab (RTX) for patients who completed the RIN-1 study, a multicentre, randomised, double-blind, placebo-controlled trial of RTX. We also investigated the long-term safety and efficacy of RTX. METHODS: A study design was a prospective open-label extension study following the RIN-1 study. RTX was infused repeatedly under monthly monitoring of CD19-positive and CD 20-positive B cell lymphocyte subsets from 24 weeks after an infusion. RESULTS: Thirty-three (87%) of 38 patients of the RIN-1 study were enrolled from February 2016 to March 2019 at six sites in Japan. In RIN-2, RTX was administered three times (median, range 1-5 times), and the interval of RTX administrations were 9.5 [2.5] months (mean [SD]). The observation period was 20.5 [10.1] months. During the trial, three patients dropped out due to two withdrawals and one adverse event. During the study, 28 (90%) of 31 patients were treated with RTX monotherapy. Neuromyelitis optica (NMO) relapses were observed in two patients. The annualized relapse rate (ARR) was 0.035 counts per person-years, ∼1/10th compared with 0.321 in the placebo arm of the RIN-1 study. We observed 14 severe adverse events in six (18%) and 156 adverse events, of which 135 were grade 1, 11 were grade 2 and 10 were grade 3. CONCLUSIONS: Under B cell monitoring, the interval of RTX re-infusion was elongated to nine months, and NMO relapses were suppressed with 0.035 of ARR.

Diffusion tensor imaging of peripheral nerve in patients with chronic inflammatory demyelinating polyradiculoneuropathy: a feasibility study.

INTRODUCTION: The purpose of this study was to assess the clinical feasibility of diffusion tensor imaging (DTI) for the evaluation of peripheral nerves in patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). METHODS: Using a 3-T magnetic resonance imaging scanner, we obtained DTI scans of the tibial nerves of 10 CIDP patients and 10 sex- and age-matched healthy volunteers. We prepared fractional anisotropy (FA) maps, measured the FA values of tibial nerves, and compared these values in the two study groups. In nine patients, we also performed tibial nerve conduction studies and analyzed the correlation between the FA values and parameters of the nerve conduction study. RESULTS: The tibial nerve FA values in CIDP patients (median 0.401, range 0.312-0.510) were significantly lower than those in healthy volunteers (median 0.530, range 0.469-0.647) (Mann-Whitney test, p < 0.01). They were significantly correlated with the amplitude of action potential (Spearman correlation coefficient, p = 0.04, r = 0.86) but not with nerve conduction velocity (p = 0.79, r = 0.11). CONCLUSION: Our preliminary data suggest that the noninvasive DTI assessment of peripheral nerves may provide useful information in patients with CIDP.

An autopsied case of ADSSL1 myopathy.

ADSSL1 myopathy is an inherited myopathy with limb weakness, respiratory muscle paralysis, dysphagia, and myocardial symptoms. We present an autopsy case of a 66-year-old male carrying compound heterozygous variants c.781G>A (p.D261N) and c.919delA (p.I307fs) in ADSSL1. He had not run fast since school with no family history. He showed a gradual progression of limb weakness and developed dyspnoea, dysphagia, and Brugada syndrome at the age of 56. The magnetic resonance imaging (MRI) revealed bright tongue sign. Muscle biopsy showed only chronic myopathic changes. He died of respiratory muscle weakness at the age of 66. Autopsy revealed that there were many fibres with vacuoles and nemaline rods in the biceps brachii, tongue, diaphragm, and iliopsoas. Many lipopigments and nuclear clumps were also detected. The myocardium and central nervous system had only nonspecific age-related changes. This is the first autopsied case to clarify the terminal state of ADSSL1 myopathy.

Prospective Memory Deficits in Multiple Sclerosis: Voxel-based Morphometry and Double Inversion Recovery Analysis.

Objective Prospective memory (PM) is an important social cognitive function in everyday life. PM is one of the most affected cognitive domains in multiple sclerosis (MS) patients. Gray matter (GM) atrophy and plaques have been attracting attention for various cognitive impairments in MS patients. This study aimed to clarify the atrophic GM regions associated with PM deficits and investigate the relationship between the atrophic GM regions and GM plaques. Methods Twenty-one MS patients and 10 healthy controls (HCs) underwent neuropsychological tests and MRI. PM was assessed using subtests of the Rivermead Behavioural Memory Test. A lesion symptom analysis was performed using voxel-based morphometry (VBM). We then evaluated GM plaques in the corresponding areas using double inversion recovery (DIR). Results MS patients showed lower PM scores than HCs (p=0.0064). The GM volume of MS patients tended to be lower than those of HCs. VBM analyses revealed correlations of the PM score with the orbital part of the left inferior frontal gyrus, the left hippocampus, and the right parahippocampus. There was no GM plaque in the orbital part of the left inferior frontal gyrus and the right parahippocampus. Only one patient (4.8%) had GM plaque in the left hippocampus. Conclusion The left inferior frontal gyrus, the left hippocampus, and the right parahippocampus were associated with PM in MS, whereas these atrophic GM regions were not associated with GM plaque. Regardless of the location of plaques on DIR, both PM deficit and GM atrophy should be detected using neuropsychological tests and VBM in MS patients.

HLA genotype-clinical phenotype correlations in multiple sclerosis and neuromyelitis optica spectrum disorders based on Japan MS/NMOSD Biobank data.

HLA genotype-clinical phenotype correlations are not established for multiple sclerosis (MS) and neuromyelitis optica spectrum disorders (NMOSD). We studied HLA-DRB1/DPB1 genotype-phenotype correlations in 528 MS and 165 NMOSD cases using Japan MS/NMOSD Biobank materials. HLA-DRB1*04:05, DRB1*15:01 and DPB1*03:01 correlated with MS susceptibility and DRB1*01:01, DRB1*09:01, DRB1*13:02 and DPB1*04:01 were protective against MS. HLA-DRB1*15:01 was associated with increased optic neuritis and cerebellar involvement and worsened visual and pyramidal functional scale (FS) scores, resulting in higher progression index values. HLA-DRB1*04:05 was associated with younger onset age, high visual FS scores, and a high tendency to develop optic neuritis. HLA-DPB1*03:01 increased brainstem and cerebellar FS scores. By contrast, HLA-DRB1*01:01 decreased spinal cord involvement and sensory FS scores, HLA-DRB1*09:01 decreased annualized relapse rate, brainstem involvement and bowel and bladder FS scores, and HLA-DRB1*13:02 decreased spinal cord and brainstem involvement. In NMOSD, HLA-DRB1*08:02 and DPB1*05:01 were associated with susceptibility and DRB1*09:01 was protective. Multivariable analysis revealed old onset age, long disease duration, and many relapses as independent disability risks in both MS and NMOSD, and HLA-DRB1*15:01 as an independent risk only in MS. Therefore, both susceptibility and protective alleles can influence the clinical manifestations in MS, while such genotype-phenotype correlations are unclear in NMOSD.

Trigeminal neuropathy from perineural spread of an amyloidoma detected by blink reflex and thin-slice magnetic resonance imaging.

The purpose of this study was to describe a trigeminal neuropathy caused by the perineural spread of an amyloidoma. A 62-year-old woman had an amyloidoma of the Gasserian ganglion that was hypointense on T2-weighted images; the lesion was enhanced by gadolinium on thin-slice magnetic resonance imaging. There was no evidence of systemic amyloidosis or underlying inflammatory or neoplastic disorders. Her blink reflex and thin-slice magnetic resonance imaging demonstrated that the right trigeminal nerve was involved. A rare trigeminal neuropathy resulted from the perineural spread of a primary amyloidoma that was difficult to detect by conventional magnetic resonance imaging.