Reliability of the unified multiple system atrophy rating scale using the telephone.

OBJECTIVE: The unified multiple system atrophy rating scale (UMSARS) was used to evaluate various symptoms of multiple system atrophy (MSA). And UMSARS part 1 was originally developed for use in interviews, but the need for telemedicine is increasing in COVID-19 pandemic. The purpose of this study is to evaluate the reliability of the UMSARS part 1 telephone survey. METHODS: Thirty-two MSA patients took the UMSARS part 1 face-to-face, followed by two more telephone evaluations. Intraclass correlation coefficients (ICC) and Cronbach's alpha (α) coefficients were calculated, and the inter-rater reliability was determined. At the same time, we asked about the problems in COVID-19 pandemic. RESULTS: The study participants included 15 men and 17 women with mean age of 67.1 years (SD, 8.3). For the total UMSARS part 1 score, the inter-rater ICC and Cronbach's α coefficient were 0.89 to 0.92, and 0.84 to 0.87, respectively. More than half of the items had a relatively high ICC. Cronbach's α coefficients were more than 0.7 for all items. Changes that occurred in COVID-19 pandemic included reduced outings and lack of rehabilitation in about half of the cases. CONCLUSION: The UMSARS part 1 has high inter-rater reliability and internal consistency. Evaluation of subjective symptoms showed that some variability could occur. In addition, there was concern about the influence of lack of rehabilitation due to COVID-19 pandemic.

Differentiation of speech in Parkinson's disease and spinocerebellar degeneration using deep neural networks.

INTRODUCTION: Assessing dysarthria features in patients with neurodegenerative diseases helps diagnose underlying pathologies. Although deep neural network (DNN) techniques have been widely adopted in various audio processing tasks, few studies have tested whether DNNs can help differentiate neurodegenerative diseases using patients' speech data. This study evaluated whether a DNN model using a transformer architecture could differentiate patients with Parkinson's disease (PD) from patients with spinocerebellar degeneration (SCD) using speech data. METHODS: Speech data were obtained from 251 and 101 patients with PD and SCD, respectively, while they read a passage. We fine-tuned a pre-trained DNN model using log-mel spectrograms generated from speech data. The DNN model was trained to predict whether the input spectrogram was generated from patients with PD or SCD. We used fivefold cross-validation to evaluate the predictive performance using the area under the receiver operating characteristic curve (AUC) and accuracy, sensitivity, and specificity. RESULTS: Average ± standard deviation of the AUC, accuracy, sensitivity, and specificity of the trained model for the fivefold cross-validation were 0.93 ± 0.04, 0.87 ± 0.03, 0.83 ± 0.05, and 0.89 ± 0.05, respectively. CONCLUSION: The DNN model can differentiate speech data of patients with PD from that of patients with SCD with relatively high accuracy and AUC. The proposed method can be used as a non-invasive, easy-to-perform screening method to differentiate PD from SCD using patient speech and is expected to be applied to telemedicine.

Gait video-based prediction of unified Parkinson's disease rating scale score: a retrospective study.

BACKGROUND: The diagnosis of Parkinson's disease (PD) and evaluation of its symptoms require in-person clinical examination. Remote evaluation of PD symptoms is desirable, especially during a pandemic such as the coronavirus disease 2019 pandemic. One potential method to remotely evaluate PD motor impairments is video-based analysis. In this study, we aimed to assess the feasibility of predicting the Unified Parkinson's Disease Rating Scale (UPDRS) score from gait videos using a convolutional neural network (CNN) model. METHODS: We retrospectively obtained 737 consecutive gait videos of 74 patients with PD and their corresponding neurologist-rated UPDRS scores. We utilized a CNN model for predicting the total UPDRS part III score and four subscores of axial symptoms (items 27, 28, 29, and 30), bradykinesia (items 23, 24, 25, 26, and 31), rigidity (item 22) and tremor (items 20 and 21). We trained the model on 80% of the gait videos and used 10% of the videos as a validation dataset. We evaluated the predictive performance of the trained model by comparing the model-predicted score with the neurologist-rated score for the remaining 10% of videos (test dataset). We calculated the coefficient of determination (R2) between those scores to evaluate the model's goodness of fit. RESULTS: In the test dataset, the R2 values between the model-predicted and neurologist-rated values for the total UPDRS part III score and subscores of axial symptoms, bradykinesia, rigidity, and tremor were 0.59, 0.77, 0.56, 0.46, and 0.0, respectively. The performance was relatively low for videos from patients with severe symptoms. CONCLUSIONS: Despite the low predictive performance of the model for the total UPDRS part III score, it demonstrated relatively high performance in predicting subscores of axial symptoms. The model approximately predicted the total UPDRS part III scores of patients with moderate symptoms, but the performance was low for patients with severe symptoms owing to limited data. A larger dataset is needed to improve the model's performance in clinical settings.

Rescue Extracranial-Intracranial Bypass for Ischemic Stroke Secondary to Progressive Human Immunodeficiency Virus-Associated Vasculopathy.

BACKGROUND: Human immunodeficiency virus (HIV) associated vasculopathy can cause ischemic cerebral stroke; however, there is limited evidence on optimal management. Herein, we report a case of acute ischemic stroke due to progressive internal carotid artery (ICA) stenosis in an HIV-positive patient. Superficial temporal artery to middle cerebral artery (STA-MCA) bypass, in addition to the best medical treatments, prevented stroke progression. CLINICAL DESCRIPTION: A 39-year-old man with HIV infection presented with a sudden onset of aphasia and right hemiparesis. Magnetic resonance imaging revealed an ischemic lesion in the left basal ganglia and concentric thickening of the vessel wall in the terminal portion of the bilateral ICAs. Despite maximal medical treatments for HIV-associated vasculopathy and possible opportunistic infections, bilateral ICA stenoses progressed, leading to a second hemodynamic stroke event. Because tissue plasminogen activator treatment failed, we performed STA-MCA bypass. A significant improvement in neurologic symptoms and cerebral blood flow was observed after surgery. No further stroke events occurred during the continuation of medical treatments. CONCLUSION: This is the first case of STA-MCA bypass performed in a patient with recurrent ischemic stroke caused by HIV-associated vasculopathy. Although further evidence is needed, such treatment options can shed new light on the management of progressive HIV-associated vasculopathy, which is refractory to maximal medical treatment.

[A case of Guillain-Barré syndrome following hepatitis E virus infection].

An 81-year-old man presented with limb weakness and dysesthesia approximately 10 days after eating pork liver. His neurological examination revealed muscle weakness predominantly centered in the lower limbs and absence of deep tendon reflex, and cerebrospinal fluid analysis showed elevated proteins with normal cell counts. Furthermore, his nerve conduction studies revealed distal motor latency prolongation and decreased motor nerve conduction velocities in the bilateral median, ulnar, tibial, and peroneal nerves. Lastly, serological analysis was performed for hepatitis E virus markers, resulting in a positive result for hepatitis E virus (HEV)-IgA antibody and HEV-RNA. Given all these findings, the patient was diagnosed with acute HEV-associated Guillain-Barré syndrome (GBS), and intravenous immunoglobulin treatment was administered for five days. Following this, muscle weakness and dysesthesia gradually improved. As observed in this report, the number of HEV-associated GBS cases has been increasing over the past several years. Therefore, HEV infection should be considered in GBS patients who have a history of pork consumption or have been suffering from liver dysfunction.

Correlation of active contact location with weight gain after subthalamic nucleus deep brain stimulation: a case series.

BACKGROUND: Weight gain (WG) is a frequently reported side effect of subthalamic deep brain stimulation; however, the underlying mechanisms remain unclear. The active contact locations influence the clinical outcomes of subthalamic deep brain stimulation, but it is unclear whether WG is directly associated with the active contact locations. We aimed to determine whether WG is associated with the subthalamic deep brain stimulation active contact locations. METHODS: We enrolled 14 patients with Parkinson's disease who underwent bilateral subthalamic deep brain stimulation between 2013 and 2019. Bodyweight and body mass index were measured before and one year following the surgery. The Lead-DBS Matlab toolbox was used to determine the active contact locations based on magnetic resonance imaging and computed tomography. We also created sweet spot maps for WG using voxel-wise statistics, based on volume of tissue activation and the WG of each patient. Fluorodeoxyglucose-positron emission tomography data were also acquired before and one year following surgery, and statistical parametric mapping was used to evaluate changes in brain metabolism. We examined which brain regions' metabolism fluctuation significantly correlated with increased body mass index scores and positron emission tomography data. RESULTS: One year after surgery, the body mass index increase was 2.03 kg/m2. The sweet spots for WG were bilateral, mainly located dorsally outside of the subthalamic nucleus (STN). Furthermore, WG was correlated with increased metabolism in the left limbic and associative regions, including the middle temporal gyrus, inferior frontal gyrus, and orbital gyrus. CONCLUSIONS: Although the mechanisms underlying WG following subthalamic deep brain stimulation are possibly multifactorial, our findings suggest that dorsal stimulation outside of STN may lead to WG. The metabolic changes in limbic and associative cortical regions after STN-DBS may also be one of the mechanisms underlying WG. Further studies are warranted to confirm whether dorsal stimulation outside of STN changes the activities of these cortical regions.

Chronic deep brain stimulation reduces cortical ß-γ phase amplitude-coupling in patients with Parkinson's disease.

We compared ß-γ phase amplitude coupling (PAC) before and one year after chronic deep brain stimulation (DBS) in patients with Parkinson's disease using EEG and observed significant post-operative reduction of PAC values. Our findings suggest that the reduction in PAC due to DBS can be observed after chronic stimulation, which is not a transient phenomenon just after the start of DBS.

Inflammatory Myopathy Associated with Anti-mitochondrial Antibody Presenting Only with Respiratory Failure.

A 56-year-old woman presenting with type II respiratory failure was transferred to our hospital. She did not exhibit muscle weakness or elevated serum myogenic enzymes, but needle electromyography revealed myogenic changes in the limb muscles, and her blood tests were positive for anti-mitochondrial antibodies (AMA). Muscle histopathological findings included immune-mediated necrotizing myopathy, so she was diagnosed with inflammatory myopathy associated with AMA. After treatment with corticosteroids and noninvasive positive pressure ventilation, her symptoms improved. If a diagnosis of type II respiratory failure is difficult, inflammatory myopathy associated with AMA should be considered as a differential diagnosis.

Light-chain amyloid myopathy isolated to skeletal muscles: A case report.

Isolated amyloidosis, especially of amyloid light-chain type, is an infrequent disease. Systemic chemotherapy for light-chain amyloidosis isolated to skeletal muscles plays a key role to reduce clonal plasma cells producing aberrant immunoglobulin.

[A case of Emery-Dreifuss muscular dystrophy with slight joint contracture].

A 42-year-old man with a history of two previous coronary embolisms was referred to our hospital. He had been experiencing muscle weakness since he was around 40 years old. He had muscle atrophy of the scapula, upper arm, and lower extremities, and electromyography revealed myogenic changes in the limb muscles. Histopathological analysis of the muscle biopsy specimen revealed a complete deficiency of emerin protein, and genetic examination revealed a mutation in the emerin (EMD) gene, resulting in a diagnosis of Emery-Dreifuss muscular dystrophy (EDMD). EDMD is a muscular disorder with three symptoms: joint contracture at early onset, muscle weakness and atrophy, and cardiac dysfunction. Although this patient showed no obvious joint contracture, the course and clinical symptoms vary among patients. Therefore, in patients in whom clinical diagnosis is difficult, muscle biopsy and genetic testing should be performed for EDMD in order to prevent sudden death due to this disease.

[A case of tibial nerve palsy due to intraneural ganglion cysts].

A 39-year-old man presented with an 8-month history of pain and paresthesia of the right foot sole and difficulty in the right toe dorsiflexion. A neurological examination revealed weakness in performing both the ankle and right foot toe dorsiflexion, reduced right planta pedis sensation, and absent right Achilles tendon reflex. Tinel's sign was present on the right popliteal fossa and medial part of the right ankle. MRI of the right knee showed multiple cystic lesions in his right tibial nerve. The cystic lesions extended from the popliteal fossa and were thought to be intraneural ganglion cysts. On MRI performed 4 months later, most of the cystic lesions spontaneously vanished. Therefore, intraneural ganglia should be considered when atypical mononeuropathy, such as tibial nerve palsy, is present.

Reversible splenial lesion in new-onset refractory status epilepticus: A case report.

A 33-year-old man developed a generalized tonic-clonic seizure after a week of fever and fatigue. Diffusion weighted and fluid attenuated inversion recovery magnetic resonance imaging showed a hyperintense lesion in the splenium of the corpus callosum, and the lesion disappeared within a few days. The patient developed refractory status epilepticus despite treatment with multiple antiepileptic drugs. After concurrent administration of high-dose methylprednisolone, intravenous immunoglobulin, intravenous anesthetics and antiepileptic drugs, the patient achieved complete suppression of seizures. To the best of our knowledge, this is the first case of a new-onset refractory status epilepticus with a reversible splenial lesion.

[A case of Lyme neuroborreliosis without erythema migrans].

A 56-year-old man was sustained ticks at the left axilla and flank. He did not have a rash. About 3 months after the tick bites, he developed back pain, right leg weakness, right abducens nerve palsy, and left facial palsy. Western blot analysis for serum IgM and IgG antibodies against Borrelia were positive. We diagnosed Lyme borreliosis. The patient was treated with antibiotics and steroids, and the symptoms improved. Our findings demonstrate that, even if erythema migrans is not obvious, neuroborreliosis should be considered when neurological signs, such as multiple cranial nerve palsies, are present.

SCA42 mutation analysis in a case series of Japanese patients with spinocerebellar ataxia.

Spinocerebellar ataxia (SCA) is a group of dominantly inherited heterogeneous disorders in which 43 subtypes have been identified to date. Recently, Japanese and French families with SCA type 42 (SCA42) were found to have a missense mutation (c.5144G>A; R1715H) in CACNA1G. We performed genetic analysis of 84 unrelated families to find the prevalence of SCA42 in Japan. Two families were found to have the previously reported missense mutation. Clinical presentations of the affected members of these families were similar to those of the previously reported French and Japanese families. Our study demonstrates that SCA42 exists in small numbers in Japan, and further supports the idea that SCA42 is a slowly progressive, pure cerebellar ataxia.