Longitudinal Changes in Neuropsychological Functioning in Japanese Patients with Myotonic Dystrophy Type 1: A Five Year Follow-Up Study.

Background: Myotonic dystrophy type 1 (DM1) is a form of muscular dystrophy that causes various symptoms, including those of the central nervous system. Some studies have reported cognitive decline in patients with DM1, although the available evidence is limited.

Objective: This study aimed to describe longitudinal differences in neuropsychological function in patients with DM1.

Dopamine transporter single-photon emission computed tomography-derived radiomics signature for detecting Parkinson's disease.

Background: We hypothesised that the radiomics signature, which includes texture information of dopamine transporter single-photon emission computed tomography (DAT-SPECT) images for Parkinson's disease (PD), may assist semi-quantitative indices. Herein, we constructed a radiomics signature using DAT-SPECT-derived radiomics features that effectively discriminated PD from healthy individuals and evaluated its classification performance.

Results: We analysed 413 cases of both normal control (NC, n = 101) and PD (n = 312) groups from the Parkinson's Progression Markers Initiative database.

A web-based questionnaire survey on the influence of coronavirus disease-19 on the care of patients with muscular dystrophy.

To clarify the influence of coronavirus disease-19 (COVID-19) on the care of muscular dystrophy patients, we performed a questionnaire survey that was posted on the internet on May 11, 2020. By the end of July 2020, 542 responses had been collected. Approximately 30% of patients postponed regular consultations, and one-quarter of patients who received consultation more than once a month used telephone consultations.

Event-related potentials using the auditory novel paradigm in patients with myotonic dystrophy.

Many neuropsychological disorders, especially attentional abnormality, are present in patients with myotonic dystrophy type 1 (DM1), but the underlying mechanisms remain unclear. This study aimed to evaluate attention function by auditory event-related potential (ERP) P3a (novelty paradigm) in DM1 patients. A total of 10 young DM1 patients (mean age 30.

Selective adaptation in sentence comprehension: Evidence from event-related brain potentials.

In this study, two event-related potential experiments were conducted to investigate whether readers adapt their expectations to morphosyntactically (Experiment 1) or semantically (Experiment 2) anomalous sentences when they are repeatedly exposed to them. To address this issue, we experimentally manipulated the probability of occurrence of grammatical sentences and syntactically and semantically anomalous sentences through experiments. For the low probability block, anomalous sentences were presented less frequently than grammatical sentences (with a ratio of 1 to 4), while they were presented as frequently as grammatical sentences in the equal probability block.

Diagnostic usefulness of denervation edema in the multifidus muscles using 3-Tesla magnetic resonance imaging in cervical radiculopathy.

Background: Diagnosing cervical radiculopathy (CR) can be difficult because of symptomatic overlap with peripheral neuropathies. In this retrospective observational study, we aimed to determine whether short-tau inversion recovery (STIR) magnetic resonance imaging (MRI) sequences are useful for detecting signs of denervation in the multifidus muscles in patients with CR.

Methods: We analyzed the data of 18 patients with CR who developed arm weakness within 1 year.

A newly developed free software tool set for averaging electroencephalogram implemented in the Perl programming language.

Background: Considering the need for daily activity analysis of older adults, development of easy-to-use, free electroencephalogram (EEG) analysis tools are desired in order to decrease barriers to accessing this technology and increase the entry of a wide range of new researchers.

New Method: We describe a newly developed tool set for EEG analysis, enabling import, average, waveform display and iso-potential scalp topographies, utilizing the programming language Perl.

Results: The basic processing, including average, display waveforms, and isopotential scalp topography was implemented in the current system.

Cardiac Conduction Disorders as Markers of Cardiac Events in Myotonic Dystrophy Type 1.

Background Myotonic dystrophy type 1 involves cardiac conduction disorders. Cardiac conduction disease can cause fatal arrhythmias or sudden death in patients with myotonic dystrophy type 1. Methods and Results This study enrolled 506 patients with myotonic dystrophy type 1 (aged ≥15 years; >50 cytosine-thymine-guanine repeats) and was treated in 9 Japanese hospitals for neuromuscular diseases from January 2006 to August 2016.

Clinical features of inherited neuropathy with BSCL2 mutations in Japan.

Heterozygous mutations in the Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) gene have been reported with different clinical phenotypes including Silver syndrome (SS)/spastic paraplegia 17 (SPG17), distal hereditary motor neuropathy type V (dHMN-V), and Charcot-Marie-Tooth (CMT) disease type 2. We screened 407 Japanese patients who were clinically suspected of having CMT by exome sequencing and searched mutations in BSCL2. As a result, we identified five patients with heterozygous mutations in BSCL2.

Ultrasonographic data of cervical nerve roots diameter in 100 healthy adults.

Clinically significant evaluation of the diameters of nerve roots by ultrasonography requires the establishment of a normal reference range. Although there are multiple reports of nerve root diameters in normal subjects, none of them describe how to normalize and compare data derived from different facilities that may differ in their methodology, equipment, techniques, and recording sites during data acquisition. The aim of the present investigation was to establish a dataset of normal values using 100 healthy subjects, and to identify the factors that affect the normal ranges of cervical nerve root diameters with regard to age, sex, laterality, and root segments.

Inter-participant variabilities and sample sizes in P300 and P600.

Reliably and efficiently detecting physiological differences between conditions of interest is of importance in psychophysiology. In particular, when it comes to the observation of relatively small differences, such as a P600 effect, a language-related brain potential elicited by ungrammatical sentences compared to grammatical sentences, inter-participant variability is a critical factor since a larger inter-participant variability decreases statistical significance, and therefore increases the necessary sample size. The present study investigated how stable individual P600s are, at which sample sizes the P600 becomes stable, and how many participants are necessary to observe a P600 effect.

The natural history of hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) in 97 Japanese patients.

Hereditary motor and sensory neuropathy with proximal dominant involvement (HMSN-P) is a motor and sensory neuronopathy with autosomal dominant inheritance, adult onset, slowly progressive course, and is associated with (TFG) mutation. At advanced stages, respiratory failure and dysphagia becomes life-threatoning, and patients typically die by their 70s. Although there is currently no evidence for effective treatment, a therapy may be found by elucidation of the function of TFG.

Cognitive impairment and quality of life in patients with myotonic dystrophy type 1.

Introduction: This study sought to clarify whether specific cognitive abilities are impaired in patients with myotonic dystrophy type 1 (DM1) as well as to investigate the relationships among quality of life (QoL), cognitive function, and psychological factors.

Methods: Sixty patients with DM1 were evaluated on cognitive functioning (abstract reasoning, attention/working memory, executive function, processing speed, and visuoconstructive ability), apathy, depression, excessive daytime sleepiness, fatigue, and QoL. QoL was assessed by 2 domains of the Muscular Dystrophy Quality of Life Scale (Psychosocial Relationships and Physical Functioning and Health).

[Complimentary use of needle electromyography and ultrasonography of tongue is effective for early detection of abnormality in 20 patients with amyotrophic lateral sclerosis].

A group of 20 consecutive patients with amyotrophic lateral sclerosis (ALS) were evaluated using electromyography (EMG) and ultrasonography (US) of the tongue. Their records were reviewed retrospectively for the rates at which abnormalities were detected by these two modalities as well as their clinical features. Visual inspection detected abnormalities in 9 of 20 patients, EMG in 12, and US in 6.

Profile of cognitive function in adults with duchenne muscular dystrophy.

Background: Several studies have examined intellectual functioning of boys with duchenne muscular dystrophy (DMD). However, little is known about the remaining cognitive weaknesses in adults with DMD.

Objective: The purpose of this study was to investigate the profile of cognitive functioning that is characteristics of adults with DMD.

[Clinical manifestations of 5 patients with idiopathic paroxysmal kinesigenic choreoathetosis].

Paroxysmal kinesigenic choreoathetosis (PKC) is a rare disorder characterized by recurrent and brief attacks of choreoathetoid and/or dystonic movements in trunk and limbs triggered by initiation of voluntary movement. Of 5 patients with idiopathic PKC in our hospital, four were men and one was with family history. Age of onset ranged from 8 to 15 years old.

Three-tesla magnetic resonance neurography of the brachial plexus in cervical radiculopathy.

Introduction: There have been no reports of the use of 3-Tesla magnetic resonance neurography (3T MRN) to characterize cervical radiculopathy. In particular, there are no reports of MRN of brachial plexus involvement in patients with cervical radiculopathy.

Methods: We reviewed retrospectively 12 consecutive patients with cervical radiculopathy who underwent 3T MRN.

Persistent hiccups and vomiting with multiple cranial nerve palsy in a case of zoster sine herpete.

A 76-year-old man came to our hospital complaining of hiccups and vomiting lasting for five days. A neurological examination showed dysfunction of cranial nerves V, VII, VIII, IX and X on the left side. Cerebrospinal fluid polymerase chain reaction for varicella zoster virus-DNA was positive.

[Autopsy case of a patient with Charcot-Marie-Tooth disease type 1A and suspected chronic inflammatory demyelinating polyradiculoneuropathy, which was later diagnosed as amyotrophic lateral sclerosis].

We report an autopsy case of a 74-year-old man with late onset Charcot-Marie-Tooth disease type 1A (CMT1A) diagnosed by genetic screening, later associated with amyotrophic lateral sclerosis (ALS). At the age of 70 years, the patient was admitted to our hospital because of progressive weakness and dysesthesia in the right upper limb. In the early stages of the illness, he was diagnosed with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), and transient improvement was achieved with intravenous immunoglobulin.

Central auditory processing of noncontextual consonance in music: an evoked potential study.

The consonance of individual chords presented out of musical context, or the noncontextual consonance of chords, is usually defined as the absence of roughness, which is a sensation perceived when slightly mistuned frequencies are not clearly resolved in the cochlea. The present work uses evoked potentials to demonstrate that the absence of roughness is not sufficient to explain the entirety of noncontextual consonance perception. Presented with a random sequence of various pure-tone intervals (0-13 semitones), listeners' cerebral cortical activities distinguished these stimuli according to their noncontextual consonance in a manner consistent with standard musical practice, even when the intervals exceeded the critical bandwidth (approximately three semitones).

[Posttraumatic hyperkinésie volitionnelle was markedly improved by Vim thalamic deep brain stimulation].

A 69-year-old man presented with hyperkinésie volitionnelle (HV) one year after a brain injury. We considered diffuse axonal injury (DAI) as the cause of HV in this patient. Neither three-dimensional anisotropy contrast magnetic resonance axonography (3DAC-MRX) nor movement-related cortical potential (MRCP) measurements revealed any abnormal findings.

Electrophysiological correlates of absolute pitch and relative pitch.

The temporal and spatial characteristics of the cortical processes responsible for absolute pitch (AP) and relative pitch (RP) were investigated by multi-channel event-related potentials (ERPs). Compared to listening, pitch-naming of tones in non-possessors of AP elicited three ERP components (P3b, parietal positive slow wave, frontal negative slow wave) over parietal and frontal scalp between 300 and 900 ms in latency, representing the cortical processes for RP. Possessors of AP elicited a unique left posterior-temporal negativity ('AP negativity') at 150 ms in both listening and pitch-naming conditions, representing the cortical processes for AP that were triggered by pitch input irrespective of the task the subjects were asked to perform.