Clinical and Radiological Features of Korean Patients With Anti-HMGCR Myopathy

Background@#and Purpose To understand the characteristics of Korean patients with anti-3-hydroxy-3-methylglutaryl-coenxyme A reductase (HMGCR) myopathy, we measured antiHMGCR antibodies and analyzed the clinical, radiological, and pathological features of patients with anti-HMGCR myopathy. @*Methods@#We measured titers of anti-HMGCR antibodies in the sera of 99 patients with inflammatory myopathy, 36 patients with genetic myopathy, and 63 healthy subjects using an enzyme-linked immunosorbent assay. We tested 16 myositis-specific autoantibodies (MSAs) in all patients with anti-HMGCR myopathy. @*Results@#Positivity for the anti-HMGCR antibody was observed in 17 (4 males and 13 females) of 99 patients with inflammatory myopathy. The median age at symptom onset was 60 years.Ten (59%) of the patients with anti-HMGCR positivity had taken statins. The titer of antiHMGCR antibodies was significantly higher in the statin-naïve group (median=230 U/mL, interquartile range=170–443 U/mL) than in the statin-exposed group (median=178 U/mL, interquartile range=105–210 U/mL, p=0.045). The most common symptom was proximal muscle weakness in 15 patients (88%), followed by myalgia in 9 (53%), neck weakness in 4 (24%), dysphagia in 3 (18%), and skin lesions in 2 (12%). The median titer of anti-HMGCR antibody was 202 U/mL. We found eight different MSAs in nine (53%) patients. The median disease duration from symptom onset to diagnosis was significantly shorter in the MSA-positive group than in the MSA-negative group (p=0.027). @*Conclusions@#Our study was the first to measure anti-HMGCR antibodies in inflammatory myopathy. It has provided new findings, including the suggestion of the coexistence of other MSAs in Korean patients.

A Rare Case of Acute Motor Axonal Neuropathy and Acute Transverse Myelitis Overlap Syndrome / 대한신경근육질환학회지

Previous studies show few cases of concomitant Guillain-Barré syndrome (GBS) and acute transverse myelitis (ATM), also described as GBS and ATM overlap syndrome. We experienced a patient who presented with acute progressive leg weakness and hyperreflexia at initial stage, but was followed by areflexia. The spine magnetic resonance imaging revealed radiological findings of ATM and nerve conduction studies showed electrodiagnostic findings of acute motor axonal neuropathy, known as GBS subtype. The response to treatment with intravenous immune globulin was good.

Statin-Induced Immune-Mediated Necrotizing Myopathy with Anti-HMGCR Antibody / 대한신경근육질환학회지

Anti-3-hydroxy-3-methylglutaryl coenzyme A reductase (anti-HMGCR) antibody related immune-mediated necrotizing myopathy (IMNM) are usually associated with statin use. The disease has features of persistent muscle weakness and creatine kinase (CK) elevation after statin discontinuation. This report describes a 65-year-old female taking atorvastatin, presenting with both proximal lower extremity weakness. IMNM feature were detected on muscle biopsy and high anti-HMGCR autoantibody titer on enzyme-linked immunosorbent assay (ELISA). This patient was treated with corticosteroid. Muscle weakness and CK are improved after immunosuppressive therapy.

Pattern of Extraocular Muscle Involvements in Miller Fisher Syndrome

BACKGROUND AND PURPOSE: The most-common initial manifestation of Miller Fisher syndrome (MFS) is diplopia due to acute ophthalmoplegia. However, few studies have focused on ocular motility findings in MFS. This study aimed to determine the pattern of extraocular muscle (EOM) paresis in MFS patients. METHODS: We consecutively recruited MFS patients who presented with ophthalmoplegia between 2010 and 2015. The involved EOMs and the strabismus pattern in the primary position were analyzed. Antecedent infections, other involved cranial nerves, and laboratory findings were also reviewed. We compared the characteristics of the patients according to the severity of ophthalmoplegia between complete ophthalmoplegia (CO) and incomplete ophthalmoplegia (IO). RESULTS: Twenty-five patients (15 males and 10 females) with bilateral ophthalmoplegia were included in the study. The most-involved and last-to-recover EOM was the lateral rectus muscle. CO and IO were observed in 11 and 14 patients, respectively. The patients were aged 59.0±18.4 years (mean±SD) in the CO group and 24.9±7.4 years in the IO group (p<0.01), and comprised 63.6% and 21.4% females, respectively (p=0.049). Elevated cerebrospinal fluid protein was identified in 60.0% of patients with CO and 7.7% of patients with IO (p=0.019) for a mean follow-up time from the initial symptom onset of 3.7 days. CONCLUSIONS: The lateral rectus muscle is the most-involved and last-to-recover EOM in ophthalmoplegia. The CO patients were much older and were more likely to be female and have an elevation of cerebrospinal fluid protein than the IO patients.

Patterns of Orthostatic Blood Pressure Changes in Patients with Orthostatic Hypotension

BACKGROUND AND PURPOSE: The objective of this study was to determine the patterns of blood pressure (BP) changes during the head-up tilt (HUT) test, particularly in terms of its clinical significance for patients with orthostatic hypotension (OH). METHODS: OH was divided into four categories based on systolic BP changes occurring within the first 10 minutes of the HUT test: sustained orthostatic hypotension (SOH), progressive orthostatic hypotension (POH), orthostatic hypotension with partial recovery (OHPR), and transient orthostatic hypotension (TOH). RESULTS: In total, 151 patients were analyzed: 65 with SOH, 38 with POH, 21 with OHPR, and 27 with TOH. POH patients exhibited the greatest reduction in systolic BP after HUT and were also the most likely to develop symptoms requiring early termination of the HUT test (42.1%, p < 0.001). Additionally, SOH patients exhibited smaller heart-rate variation with deep breathing values (p=0.003) and Valsalva ratios (p=0.022) compared to POH patients. The sweat volume was greatest in OHPR patients. CONCLUSIONS: Clinical characteristics, including the findings of autonomic function tests, differed between the OH patient groups. This might reflect differences in the underlying pathophysiologic mechanisms. Determining the patterns of BP changes during the HUT test may facilitate the development of effective management strategies in patients with OH.

Clinical Heterogeneity of Anti-GM2-Ganglioside-Antibody Syndrome

BACKGROUND AND PURPOSE: Antiganglioside antibodies are known to play a pathogenic role in Guillain-Barré syndrome (GBS). Either an immunoglobulin (Ig)G- or IgM-type anti-GM2 antibody is detected in rare cases in GBS patients. However, the specific pathogenic role of these antibodies in GBS has not been reported previously. This study aimed to define and characterize the clinical spectrum of GBS with anti-GM2 positivity. METHODS: We reviewed the database of the Dong-A University Neuroimmunology Team, which has collected sera of GBS and its variants from more than 40 general and university-based hospitals in Korea. Detailed information about the involved patients was often obtained and then corrected by the charge doctor applying additional questionnaires. RESULTS: Four patients with acute monophasic peripheral neuropathy or cranial neuropathy with isolated IgM-type anti-GM2-antibody positivity were recruited. In addition, IgG-type anti-GM2 antibody was solely detected in the sera of another four patients. The IgM-positive group comprised heterogeneous syndromes: two cases of acute motor axonal neuropathy, one of acute inflammatory demyelinating polyneuropathy, and one of isolated facial diplegia. In contrast, all of the cases enrolled in the IgG-positive group manifested with dizziness with or without oculomotor palsy due to cranial neuropathy syndrome. CONCLUSIONS: This study has identified that anti-GM2 antibody can be found in various subtypes of GBS and its variants in rare cases. Compared to the clinical heterogeneity of the IgM-positive group, the IgG-positive group can be characterized by cranial-dominant GBS variants presenting mainly with oculomotor and vestibular dysfunctions.

Application of Near-Infrared Spectroscopy in Neurological Disorders: Especially in Orthostatic Intolerance

Near-infrared spectroscopy (NIRS), a noninvasive optical method, utilizes the characteristic absorption spectra of hemoglobin in the near-infrared range to provide information on cerebral hemodynamic changes in various clinical situations. NIRS monitoring have been used mainly to detect reduced perfusion of the brain during orthostatic stress for three common forms of orthostatic intolerance (OI); orthostatic hypotension, neurally mediated syncope, and postural orthostatic tachycardia syndrome. Autonomic function testing is an important diagnostic test to assess their autonomic nervous systems for patients with symptom of OI. However, these techniques cannot measure dynamic changes in cerebral blood flow. There are many experimentations about study of NIRS to reveal the pathophysiology of patients with OI. Research using NIRS in other neurologic diseases (stroke, epilepsy and migraine) are ongoing. NIRS have been experimentally used in all stages of stroke and may complement the established diagnostic and monitoring tools. NIRS also provide pathophysiological approach during rehabilitation and secondary prevention of stroke. The hemodynamic response to seizure has long been a topic for discussion in association with the neuronal damage resulting from convulsion. One critical issue when unpredictable events are to be detected is how continuous NIRS data are analyzed. Besides, NIRS studies targeting pathophysiological aspects of migraine may contribute to a deeper understanding of mechanisms relating to aura of migraine. NIRS monitoring may play an important role to trend regional hemodynamic distribution of flow in real time and also highlights the pathophysiology and management of not only patients with OI symptoms but also those with various neurologic diseases.

Does Diabetes Mellitus Influence Carpal Tunnel Syndrome?

BACKGROUND AND PURPOSE: Diabetes mellitus (DM) has been proposed as a risk factor for carpal tunnel syndrome (CTS), but this remains controversial. We investigated the association between DM and CTS using both ultrasonography (US) and nerve conduction study (NCS) data. METHODS: We analyzed a prospectively recruited database of neuromuscular US and medical records of subjects who had undergone NCSs and electromyography for symptoms suggestive of CTS. Subjects were assigned to the follow groups: Group I, CTS with DM; Group II, CTS without DM; Group III, no CTS with DM; and Group IV, no CTS without DM. US cross-sectional area (CSA) and NCS measurements at the median nerve (MN) were compared among groups. We used a general linear mixed model to adjust for statistically significant covariates. RESULTS: The 230 participants comprised 22, 83, 19, and 106 in Groups I–IV, respectively. In multivariate analyses, the MN action potential amplitude in females was the only variable that was significantly associated with DM (p<0.001). Groups with DM tended to have a longer latency, smaller amplitude, and lower conduction velocity in the NCSs compared to groups without DM. The measured US CSA values did not differ significantly among the groups. CONCLUSIONS: NCS measurements of the MN tended to differ between DM and non-DM patients regardless of the presence or absence of CTS. However, US did not reveal any statistically significant relationship between CTS and DM.

Probable Paroxysmal Hemicrania Associated with Holmes-Adie Syndrome

No abstract available.