Jung-Hwan Oh

Nerve conduction studies in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebral microangiopathy linked to mutations in the Notch3 gene. The cerebral impairments of CADASIL are well-known, but peripheral nervous impairments such as polyneuropathy are less clear. Recently, peripheral neuropathy was proposed as one of the CADASIL phenotypes. We investigated peripheral nerve involvement in CADASIL patients. Forty-three CADASIL patients with confirmed Notch3 gene mutations underwent a nerve conduction studies using a conventional surface technique in 86 upper and lower extremities. Nerve conduction abnormalities were apparent in seven of the 43 patients. Of the seven patients, four displayed nerve entrapment syndromes (carpal tunnel syndrome, nxa0=xa03; ulnar neuropathy, nxa0=xa01), and three displayed sensorimotor polyneuropathy. Of the latter three, two patients had diabetes mellitus. We suggest that peripheral neuropathy may not be part of the CASASIL phenotype. However, genotype–phenotype heterogeneity can not be excluded.

Both binding and blocking antibodies correlate with disease severity in myasthenia gravis.

Myasthenia gravis (MG) is an autoimmune disease associated with antibodies directed to the postsynaptic muscle components of the neuromuscular junction. The heterogeneous nature of the acetylcholine receptor (AChR) antibody response had led to the categorization of AChR antibodies into 3 types: binding, blocking, and modulating antibodies. The purpose of this study is to compare the AChR antibodies’ type with the clinical severity of MG patients. The patients enrolled in the study had been tested for both binding and blocking antibodies and had disease duration exceeding 2xa0years since diagnosis. The patients were divided into five main classes by the Myasthenia Gravis Foundation of America clinical classification. Again, the enrolled patients were divided into ocular and generalized group. We compared the type and titer of antibodies and the thymus status between the ocular and generalized group. Thirty-five patients met the inclusion criteria. Of these, 16 patients (47xa0%) had both blocking and binding AChR antibodies, 11 patients (31xa0%) had only binding antibodies, and 8 patients (22xa0%) had only blocking antibodies. By defined clinical classification, the ocular and generalized groups included 10 and 25 patients, respectively. Sixteen patients in the generalized group possessed both AChR antibodies, with the remaining patients displaying only the binding antibody. All the patients with only blocking antibody were classified into ocular group. Use of binding and blocking antibodies’ tests may, therefore, be more helpful in predicting the prognosis and diagnoses of MG patient.

Intracranial Vasospasm without Intracranial Hemorrhage due to Acute Spontaneous Spinal Subdural Hematoma

Spontaneous spinal subdural hematoma (SDH) is very rare. Furthermore, intracranial vasospasm (ICVS) associated with spinal hemorrhage has been very rarely reported. We present an ICVS case without intracranial hemorrhage following SDH. A 41-year-old woman was admitted to our hospital with a complaint of severe headache. Multiple intracranial vasospasms were noted on a brain CT angiogram and transfemoral cerebral angiography. However, intracranial hemorrhage was not revealed by brain MRI or CT. On day 3 after admission, weakness of both legs and urinary incontinence developed. Spine MRI showed C7~T6 spinal cord compression due to hyperacute stage of SDH. After hematoma evacuation, her symptoms gradually improved. We suggest that spinal cord evaluation should be considered in patients with headache who have ICVS, although intracranial hemorrhage would not be visible in brain images.

Hereditary Motor and Sensory Neuropathy Type VI with Bilateral Middle Cerebellar Peduncle Involvement

Charcot-Marie-Tooth disease (CMT) 2A with optic atrophy is referred to as hereditary motor and sensory neuropathy type VI (HMSN VI) and is caused by mitofusin 2 gene (MFN2) mutation. In patients with MFN2 related CMT, central nervous system is known to be also involved and cerebral white matter is mostly involved. We report a patient confirmed as HMSN VI who had isolated bilateral middle cerebellar peduncular lesions in brain MRI.

Lying-down nystagmus and head-bending nystagmus in horizontal semicircular canal benign paroxysmal positional vertigo: are they useful for lateralization?

BackgroundLateralization of horizontal semicircular canal benign paroxysmal positional vertigo (HSC-BPPV) is very important for successful repositioning. The directions of lying-down nystagmus (LDN) and head-bending nystagmus (HBN) have been used as ancillary findings to identify the affected sites. This retrospective study was performed to evaluate the lateralizing values of LDN and HBN using clinical and laboratory findings for lateralizing probabilities in patients with HSC-BPPV.MethodsFor 50 HSC-BPPV patients with asymmetric direction-changing horizontal nystagmus (DCHN) during the head-rolling test (HRT) using Frenzel goggles, the directions of LDN and HBN were evaluated and compared to those determined by video-oculography. Directional LDN was defined as the contralesional direction of nystagmus in geotropic types and the ipsilesional direction in apogeotropic types. Directional HBN was defined as the opposite direction relative to directional LDN. We also analyzed LDN and HBN in 14 patients with a history of ipsilesional peripheral vestibulopathy, caloric abnormality or conversion from other types of BPPV (such as probable localized HSC-BPPV, pro-BPPV).ResultsLDN and HBN were seen in 68% (34/50) and 76% (38/50) of patients, respectively. Of these, 19 (55.9%), and 28 (73.7%) patients showed directional LDN and HBN, respectively. The proportion of patients with directional LDN and HBN was much smaller among the pro-BPPV patients (4/12 for LDN, 3/10 for HBN).ConclusionsLDN and HBN did not seem to predict lateralization in patients with HSC-BPPV. To improve the prediction of lateralization of HSC-BPPV, it is necessary to modify the maneuvers used to elicit LDN or HBN, especially in cases of symmetric DCHN during HRT.

Low serum vitamin D levels in patients with myasthenia gravis

Myasthenia gravis (MG) is a chronic autoimmune neuromuscular disease. Vitamin D has important roles both in the autoimmune response and in skeletal muscles. We investigated the levels of 1,25-dihydroxy vitamin D [1,25(OH)2D] and 25-hydroxy vitamin D [25(OH)D] in patients with MG and healthy subjects. MG patients were classified by disease stage, age of onset and treatment status whether or not to taking immunosuppressive agents. MG patients had lower plasma 25(OH)D levels (mean, 18.8u202f±u202f8.4u202fng/mL) than healthy controls (26.3u202f±u202f6.1u202fng/mL) (pu202f<u202f.05). 1,25(OH)2D levels showed slightly high in MG patients than healthy controls, but had no significant difference between two groups. In addition, no significant differences were observed between two groups divided by clinical characteristics. Serum 25(OH)D levels significantly lower in patients with MG compared with healthy controls. We recommend monitoring of vitamin D status in patients with MG to avoid direct negative effects on the muscles or autoimmune response.

Low body mass index can be associated with the risk and poor outcomes of neuromyelitis optica with aquaporin-4 immunoglobulin G in women

Neuromyelitis optica spectrum disorder with aquaporin-4 immunoglobulin G (NMOSD-AQP4) is an inflammatory disease of the central nervous system (CNS). Recent studies have demonstrated that body mass index (BMI) can be associated with the risk and/or outcomes of diverse inflammatory diseases, such as rheumatoid arthritis (RA), psoriasis, Hashimoto’s thyroiditis and multiple sclerosis (MS). However, the clinical implication of BMI in NMOSD-AQP4 is still unknown.nn### PatientsnnA total of 157 patients with NMOSD-AQP4 who had their first episodes between 1982 and 2016, from six nationwide tertiary referral hospitals, were finally included (see figure 1 in the online Supplementary filexa01). Patients were tested for antiaquaporin-4 (AQP4) antibody using either the fluorescence-activated cell sorting assay or cell-based assay.1 In the NMOSD-AQP4 group, BMI measured within 1u2009month of the first symptom of NMOSD-AQP4 and before any steroid treatment, immune suppressant, or immune modifying treatment (BMInaive) and the lowest BMI measured within 1u2009year of the first symptoms of NMOSD-AQP4 (BMImin-1yr) were obtained, respectively. BMI values less than 18.5u2009kg/m2 were classified as low according to the WHO recommendation. Demographic information, number and location of attacks, results of the cerebrospinal fluid examination and maximal score of the Kurtzke Expanded Disability Status Scale (EDSS) on disease onset were assessed. Prognosis was evaluated in terms of the time to a confirmed EDSS of 6 (EDSS6), functional system score of 4 for visual function (VF4) and mortality.nn### Supplementary file 1nn[jnnp-2017-317202-SP1.jpg]nn### Healthy controls and MS controlsnnA matched case–control study was performed to evaluate the association between BMI and risk for NMOSD-AQP4. The controls were selected from the 96u2009146 participants included in the nationwide population-based survey of the health and nutritional status of Korea (Korean National Health and Nutrition Examination Survey (KNHANES))2 conducted in 1998, 2001, 2005 and 2007–2015. Four controls were matched to each case based on age, sex and year of BMI measurement (within …

Bilateral Adduction Palsy in a Patient with Myotonic Dystrophy Type 1.

Myotonic dystrophy type 1 (DM1) is caused by CTG repeat expansion in the DMPK gene in chromosome 19q13.3. External ophthalmoplegia is a rare manifestation in DM1. We report a DM1 patient confirmed by the presence of 650 CTG triplet expansions in the DMPK gene and had limitation of adduction gaze bilaterally. Brain MRI showed bilateral medial rectus muscles atrophy. Our patient provides additional evidence of ocular motor muscle involvement in DM1.