Utility of the Repetitive Nerve Stimulation Test and Needle EMG in the Trapezius Muscle for the Early Diagnosis of ALS.

OBJECTIVES: To document the utility of decremental responses in the repetitive nerve stimulation test (RNS) and spontaneous activities in needle electromyography (EMG) in the trapezius muscle for the diagnosis of amyotrophic lateral sclerosis. METHODS: Subjects were retrospectively identified from our EMG database. Cervical spondylosis was represented as a disease control group. We investigated the sensitivity and specificity of RNS and EMG in the trapezius muscle and those of diagnostic criteria including the Gold Coast criteria (GCC). RESULTS: We reviewed 120 patients with amyotrophic lateral sclerosis and 17 patients with cervical spondylosis. "RNS or EMG" achieved the highest sensitivity (85%). The specificity was the highest for RNS (94%). Addition of RNS of the deltoid muscle achieved 98% sensitivity in the upper-limb onset amyotrophic lateral sclerosis. The sensitivity of the GCC was very high (88%). CONCLUSIONS: Neurophysiological parameters investigated in this study having close to 100% specificities or sensitivities are useful as complements to the GCC.

Weak gluteus maximus and weak iliopsoas with normal gluteus maximus: Two complementary new signs to diagnose lower limb functional weakness.

BACKGROUND AND PURPOSE: The diagnosis of functional neurological disorder should be actively made based on the neurological signs. We described two new complementary signs to diagnose functional weakness of the lower limb, "weak gluteus maximus (weak GM)" and "weak Iliopsoas with normal gluteus maximus (weak iliopsoas with normal GM)," and tested their validity. METHODS: The tests comprised Medical Research Council (MRC) examinations of the iliopsoas and GM in the supine position. We retrospectively enrolled patients with functional weakness (FW) or structural weakness (SW) who presented with weakness of either iliopsoas or GM, or both. Weak GM means that the MRC score of GM is 4 or less. Its complementary sign, weak ilopsoas with normal GM, means that the MRC score of ilopsoas is 4 or less, whereas that of GM is 5. RESULTS: Thirty-one patients with FW and 72 patients with SW were enrolled. The weak GM sign was positive in all 31 patients with FW and in 11 patients with SW, that is, 100% sensitivity and 85% specificity. Therefore, the complementary sign, weak iliopsoas with normal GM, was 100% specific for SW. DISCUSSION: Although 100% should be discounted considering limitations of this study, these signs will likely be helpful in differentiating between FW and SW in the general neurology setting. Downward pressing of the lower limb to the bed in the supine position is interpreted by the patient as an active movement exerted with an effort and might be preferentially impaired in FW.

Inflammatory Myopathy Associated with Anti-mitochondrial Antibody-negative Primary Biliary Cholangitis Diagnosed by a Liver Biopsy.

Anti-mitochondrial antibody (AMA)-associated myopathies represent a homogeneous disease entity with severe arrhythmia and slowly progressive proximal muscle weakness with lordotic posture, irrespective of the presence of primary biliary cholangitis (PBC). We herein report a case of myositis associated with PBC without AMAs. A 48-year-old woman presented with clinical features very similar to AMA-associated myositis, despite negative AMAs. PBC, ascertained by a liver biopsy performed based on mildly elevated liver enzymes, and the efficacy of steroid therapy on muscle weakness confirmed the diagnosis of immune-mediated myositis. When AMAs are negative, a liver biopsy is indispensable for diagnosing treatable PBC-associated myositis.

Characteristics of Ischemic Versus Hemorrhagic Stroke in Patients Receiving Oral Anticoagulants: Results of the PASTA Study.

Objective Limited data exist regarding the comparative detailed clinical characteristics of patients with ischemic stroke (IS)/transient ischemic attack (TIA) and intracerebral hemorrhage (ICH) receiving oral anticoagulants (OACs). Methods The prospective analysis of stroke patients taking oral anticoagulants (PASTA) registry, a multicenter registry of 1,043 stroke patients receiving OACs [vitamin K antagonists (VKAs) or non-vitamin K antagonist oral anticoagulant (NOACs)] across 25 medical institutions throughout Japan, was used. Univariate and multivariable analyses were used to analyze differences in clinical characteristics between IS/TIA and ICH patients with atrial fibrillation (AF) who were registered in the PASTA registry. Results There was no significant differences in cardiovascular risk factors, such as hypertension, diabetes mellitus, dyslipidemia, smoking, or alcohol consumption (all p>0.05), between IS/TIA and ICH among both NOAC and VKA users. Cerebral microbleeds (CMBs) [odds ratio (OR), 4.77; p<0.0001] were independently associated with ICH, and high brain natriuretic peptide/N-terminal pro B-type natriuretic peptide levels (OR, 1.89; p=0.0390) were independently associated with IS/TIA among NOAC users. A history of ICH (OR, 13.59; p=0.0279) and the high prothrombin time-international normalized ratio (PT-INR) (OR, 1.17; p<0.0001) were independently associated with ICH, and a history of IS/TIA (OR, 3.37; 95% CI, 1.34-8.49; p=0.0101) and high D-dimer levels (OR, 2.47; 95% CI, 1.05-5.82; p=0.0377) were independently associated with IS/TIA among VKA users. Conclusion The presence of CMBs, a history of stroke, natriuretic peptide and D-dimer levels, and PT-INR may be useful for risk stratification of either IS/TIA or ICH development in patients with AF receiving OACs.

Neuromyelitis Optica Complicated by Ornithine Transcarbamylase Deficiency Treated Safely with Pulse Steroid Therapy.

Steroid administration to patients with urea cycle disorders can cause hyperammonemia. We encountered a 36-year-old woman with neuromyelitis optica (NMO) complicated by ornithine transcarbamylase (OTC) deficiency. By reducing the doses of steroids and adequate infusion management, we were able to administer pulse steroid therapy without any severe complications. This case indicates the safety of steroid treatment in patients with urea cycle disorders.

Determining C5, C6 and C7 myotomes through comparative analyses of clinical, MRI and EMG findings in cervical radiculopathy.

OBJECTIVE: There are many myotome charts in the literature, but few studies have presented actual data to support their identification. We aimed to determine C5/C6/C7 myotomes based on clinical and EMG data of patients with cervical spondylotic radiculopathy (CSR) having a single-root lesion confirmed by MRI. METHODS: Medical Research Council (MRC) scores and EMG findings were retrospectively reviewed for patients enrolled from our EMG database. RESULTS: Enrolled were 25 patients (10 C5, 6 C6, and 9 C7 CSR). In C5 CSR, weakness or denervation potentials in EMG, or both, were observed in the deltoid (Del) and infraspinatus (Isp) muscles for all patients, and in the biceps brachii (BB) and brachioradialis (BR) muscles for 9/10 and 8/9 patients, respectively. In C6 CSR, weakness of the wrist extensor and/or denervation of the extensor carpi radialis longus (ECRL)/extensor carpi radialis brevis (ECRB), and those of the pronator teres (PT) were observed for all patients. Weakness was not observed for any other muscle in C6 CSR. Denervation potentials of ECRL were found in 5/8 and 3/5 patients with C5 and C6 CSR, respectively, whereas those of ECRB were found in 1/5, 6/6, and 2/5 patients with C5, C6 and C7 CSR, respectively. In C7 CSR, weakness/denervation of the triceps brachii (TB) and denervation potentials of the flexor carpi radialis (FCR) were observed for all patients. Denervation potentials in PT and weakness/denervation of the extensor digitorum (ED) were observed in 2/9 and 4/9 patients, respectively. CONCLUSION: Suggested dominant myotomes are: C5 for the Del, Isp, BB, and BR, C5/6 for the ECRL, C6 > C7 for the ECRB and PT, and C7 for the TB and FCR. SIGNIFICANCE: The current study identified dominant myotomes that differ from the existing literature.

Risk factors, etiology, and outcome of ischemic stroke in young adults: A Japanese multicenter prospective study.

PURPOSE: This study aimed to evaluate the risk factors, etiology, and outcomes of ischemic stroke (IS) in Japanese young adults. METHODS: This was a prospective multicenter study. We enrolled patients aged 16 to 55 years with IS within seven days of the onset of symptoms. We assessed the demographic data, risk factors, stroke etiology, and outcome at discharge. The clinical characteristics were compared between sexes and among age groups. RESULTS: We prospectively enrolled 519 patients (median age, 48 years: 139 females). The mean National Institute of Health Stroke Scale score was 3.6 ± 0.2. The most common risk factors were hypertension (HT) (55%), dyslipidemia (DL) (47%), and current smoking (42%). Body mass index, incidence of current smoking, and heavy alcohol consumption were higher in males. The prevalence of current smoking, HT, DL, and diabetes mellitus increased with aging. The most common etiologic subgroup of IS was small vessel disease (145/510, 28%). Intracranial arterial dissection (IAD) was the most common among the other determined causes (56/115, 49%). The outcome at discharge was relatively good (mRS 0-1, 71.7%); however, poor outcome (mRS ≥ 4) was observed at an incidence of 9.5%. CONCLUSIONS: Most young adults with IS had modifiable risk factors, of which prevalence increased with age. This emphasizes lifestyle improvement to prevent IS in the young population. Furthermore, we indicated that the incidence rate of IAD was high among the other determined causes.

Multicenter Prospective Analysis of Stroke Patients Taking Oral Anticoagulants: The PASTA Registry - Study Design and Characteristics.

OBJECTIVES: The management of atrial fibrillation and deep venous thrombosis has evolved with the development of direct oral anticoagulants (DOAC), and oral anticoagulant (OAC) might influence the development or clinical course in both ischemic and hemorrhagic stroke. However, detailed data on the differences between the effects of the prior prescription of warfarin and DOAC on the clinical characteristics, neuroradiologic findings, and outcome of stroke are limited. DESIGN: The prospective analysis of stroke patients taking anticoagulants (PASTA) registry study is an observational, multicenter, prospective registry of stroke (ischemic stroke, transient ischemic attack, and intracerebral hemorrhage) patients receiving OAC in Japan. This study is designed to collect data on clinical background characteristics, drug adherence, drug dosage, neurological severity at admission and discharge, infarct or hematoma size, acute therapy including recanalization therapy or reverse drug therapy, and timing of OAC re-initiation. Patient enrollment started in April 2016 and the target patient number is 1000 patients. CONCLUSIONS: The PASTA prospective registry should identify the status of stroke patients taking OAC in the current clinical practice in Japan.

A Case of Multiple Cerebral Infarction Preceding Acute Exacerbation of Idiopathic Thrombocytopenic Purpura.

BACKGROUND: Although it was suggested that idiopathic thromobocytopenic purpura (ITP) can be a paradoxical cause of cerebral infarction, previous reports indicate that cerebral infarction associated with ITP occurs when thrombocytopenia is already evident at the onset of cerebral infarction. CASE REPORT: We report a case of multiple cerebral infarction that preceded acute exacerbation of ITP. An 80-year-old woman with a history of ITP presented with tetraplegia, and brain magnetic resonance imaging revealed multiple infarction in bilateral cerebral and cerebellar hemispheres. For ITP, she was treated with oral prednisolone and subcutaneous injection of thrombopoietin receptor agonists. Her platelet count was within the normal range at the onset of cerebral infarction. Medical work-up did not reveal the obvious causes of her multiple cerebral infarction. On day 10 of hospitalization, she showed melena and oral hemorrhage and her platelet count markedly decreased. Her platelet-associated IgG level was elevated and a diagnosis of acute exacerbation of ITP was made. She was treated with intravenous immunoglobulin and her platelet count increased moderately. However, her neurological symptoms and cerebral infarction on magnetic resonance imaging deteriorated accompanied by hemorrhagic transformation. Finally, she died of respiratory failure. CONCLUSIONS: Our case suggests that thrombophilia accompanied by ITP can precede actual exacerbation of ITP and we have to consider ITP as a possible cause of multiple cerebral infarction, even when the platelet count is within the normal range at the onset of cerebral infarction.

Case of 78-Year-Old Male with Cerebral Gas Embolism Associated with Combined Pulmonary Fibrosis and Emphysema.

Cerebral gas embolism (CGE) from the thoracic cavity is commonly associated with invasive procedures, and cases of spontaneous CGE are rare. A 78-year-old man presented with severe spontaneous CGE associated with combined pulmonary fibrosis and emphysema (CPFE). To the best of our knowledge, the comorbidity of CGE in a CPFE patient has not been documented until now. The patient became unconscious with left hemiparesis at approximately 2 a.m. Computed tomography scan revealed minute air densities scattered in the deep white matter of the right frontal lobe. The patient died on the sixth day of hospitalization. We postulated that CGE can be classified as either arterial CGE or retrogradely infused venous CGE. To differentiate between these two, the distribution of air densities provided useful information in our case. We assumed that the air was infused through the pulmonary vein to the left atrium of the heart, resulting in arterial CGE. A review of the literature further suggests that an upright position at the time of a CGE attack might be related to the retrogradely infused venous origin of the air, whereas arterial CGE may more likely occur when the patient is lying down.

[Case of 55-year-old female with primary central nervous system lymphoma, presenting with brain and eye lesions and long-term relapsing/remitting course].

We report the case of a 55-year-old immunocompetent female with primary central nervous system lymphoma (PCNSL). Seven years previously, the patient presented with left facial dysesthesia, and a right thalamus lesion was revealed by brain MRI. Both her dysesthesia and the lesion disappeared spontaneously in six months. One year previously, she noted motor disturbance of the right limbs, and brain MRI revealed lesions in the bilateral basal ganglia and the left internal capsule which gradually increased in size. She was admitted to our hospital owing to the brain MRI findings of a white matter lesion in the left occipital lobe and bilateral optic neuritis. Previously, she had experienced two episodes of steroid-responsive uveitis in her left eye. An inflammatory disease such as multiple sclerosis was initially suspected because of the relapsing/remitting clinical course with a long time interval. Treatment with corticosteroids improved her clinical symptoms and decreased the size of the lesions, but the brain lesions and bilateral optic neuritis recurred within one month. At that time, the ß2 microglobulin level in the cerebrospinal fluid was high and the left occipital lobe lesions showed increased 18F-fluoro-deoxyglucose uptake in positron emission tomography and decreased Cho/NAA ratio in 1H-MR spectroscopy. These findings suggested PCNSL. A brain biopsy confirmed the presence of diffuse large B cell lymphoma. Both uveitis and optic neuritis were considered to be caused by intraocular lymphoma associated with PCNSL. Although patients with PCNSL may experience temporary spontaneous remission, our present case suggests that the time interval from remission to relapse can be much longer than generally expected. We suggest that it is necessary to consider PCNSL and perform a brain biopsy on patients presenting with atypical clinical manifestations of an inflammatory disease, even in cases with a long clinical course.

[Two cases of stroke associated with the use of finasteride, an approved drug for male-pattern hair loss in Japan].

We report two cases of stroke associated with the use of finasteride at 1 mg/day, which is approved in Japan for the treatment of male-pattern hair loss. The first case involved a 35-year-old male taking 1 mg of finasteride daily for 6 months to prevent male-pattern hair loss. He was taken to a hospital and later admitted to our hospital owing to headache and seizures. Brain computed tomography (CT) images showed a low-density area in the right frontal lobe. CT venography (CTV) revealed sinus thrombosis and he was treated with an anticoagulant. As the headache gradually subsided, medications were tapered and terminated 10 months later when venous flow to the sagittal sinus and left transverse sinus was confirmed to be recanalized. The second case involved a 41-year-old male taking 1 mg of finasteride and 6 mg of minoxidil daily for 1 year for male-pattern hair loss. He started having headaches and was admitted to our hospital when diffusion-weighted images of brain magnetic resonance imaging (MRI) showed a high-intensity area in the left parietotemporal lobe. He was treated with antiplatelet and anticoagulation medicines. The Japan Pharmaceutical and Medical Devices Agency (PMDA) has reported 14 cases of thrombosis in patients taking finasteride in Japan; 4 cases of stroke (our 2 cases and 2 reported by PMDA), 6 cases of myocardial infarction, and 4 cases of other thrombotic diseases. Increases in estrone and estradiol levels in prostate cancer patients and controls receiving 5 mg of finasteride have been reported. Gynecomastia has also been reported as one of the adverse effects of finasteride at 1 mg or 5 mg daily. Taken together, we assume that the increases in estrone and estradiol levels induced by finasteride lead to thrombosis development.

Sudden death in Parkinson's disease: a retrospective autopsy study.

The aim of this paper is to reveal the causes of death and to verify sudden death of Parkinson's disease (PD) in an autopsy study. We reviewed the clinical data and the causes of death in 16 PD patients who had postmortem examinations. Prior to autopsy, nine patients died of known causes: five patients died of aspiration pneumonia, two of myocardial infarction, one of asphyxia, and one of dilated cardiomyopathy. Autopsy confirmed that the putative causes of death were compatible with the pathological ones. The remaining seven patients died suddenly of unknown causes. Autopsy revealed that the causes of death were asphyxia in two patients and perforation of a duodenal ulcer in one patient. Autopsy did not determine the causes of unknown death in the remaining four patients. Consequently, autopsy revealed that eight patients died of swallowing problems such as aspiration pneumonia and asphyxia, four of sudden death, three of cardiac problems, and one of a gastrointestinal problem. Although there was a bias that all patients had a postmortem examination, our study revealed that several PD patients died of sudden death without any satisfactory causes of death determined even by autopsy. Therefore, we propose that a non-negligible number of PD patients die of sudden death.

Fasciculation potentials in amyotrophic lateral sclerosis and the diagnostic yield of the Awaji algorithm.

INTRODUCTION: The role of fasciculation potentials (FPs) in the diagnosis of amyotrophic lateral sclerosis (ALS) has been underrated. The Awaji algorithm has restored the value of FPs. Our aim was to test the diagnostic yield of the Awaji algorithm, with consideration of FPs. METHODS: Subjects consisted of 139 consecutive ALS patients retrospectively enrolled over 5 years. At presentation we evaluated the diagnostic categories using the revised El Escorial Criteria (R-EEC) and the Awaji algorithm. RESULTS: The percentage of patients classified as confirmed ALS, clinically probable (laboratory-supported), or higher was 43% using the R-EEC and 37% using the Awaji algorithm. Thirteen patients with upper motor neuron signs only in one body region showed a decrease in their category using the Awaji algorithm. FPs were observed in 89% of ALS patients and were frequent in proximal muscles. CONCLUSION: The sensitivity of the Awaji algorithm is lower than that of the R-EEC.

Origin of ulnar compound muscle action potential investigated in patients with ulnar neuropathy at the wrist.

The compound muscle action potential from the abductor digiti minimi muscle is bi-lobed, and its second peak is formed by far-field potentials (FFPs). We investigated their origin in two patients with ulnar neuropathy at the wrist that spared the hypothenar muscles. FFPs were lost or distorted, which indicated that the deep motor branch-innervated muscles, such as the interossei, mainly contributed to the FFPs, especially to their initial N1 and steep following P1 components.