Jun Tsugawa

Middle Cerebellar Peduncles and Pontine T2 Hypointensities in ARSACS

Magnetic resonance imaging (MRI) of autosomal recessive spastic ataxia of Charlevoix‐Saguenay (ARSACS) cases in Quebec and Europe was reported to show linear hypointensities in T2‐weighted and Fluid Attenuated Inversion Recovery (FLAIR) images of the pons. We attempted to clarify the characteristics of the brain MRI findings in ARSACS cases.

Hypertrophic cranial nerve roots in CIDP

A 61-year-old man presented with painful dysesthesia/dysarthria (3 months) and sensorimotor impairment (13 years). Chronic inflammatory demyelinating polyradiculoneuritis (CIDP) was confirmed 4 years earlier by …

Skeletal Muscle Involvement in Antisynthetase Syndrome

Importance Antisynthetase syndrome, characterized by myositis, interstitial lung disease, skin rash, arthropathy, and Raynaud phenomenon, is a clinical entity based on the presence of aminoacyl transfer RNA synthetase (ARS) antibodies in patients’ serum. However, antisynthetase syndrome is not included in the histological subsets of idiopathic inflammatory myopathies. Objective To elucidate the clinical features of myositis in patients with antisynthetase syndrome. Design, Setting, and Participants In this cohort study, muscle biopsy and blood samples were collected from 460 patients with idiopathic inflammatory myositis from various regional referral centers throughout Japan between October 2010 and December 2014. Data were analyzed in March 2016. Exposures Six different anti-ARS antibodies were detected in serum by RNA immunoprecipitation. Line blot assay and protein immunoprecipitation were also performed. HLA-DRB1 alleles were genotyped. Main Outcomes and Measures The main outcomes were muscle manifestations and histological findings. Predisposing factors, extramuscular symptoms, and follow-up information were also studied. Results Of 460 patients with idiopathic inflammatory myopathies, 51 (11.1%) had anti-ARS antibodies. Of this subset, 31 (61%) were women, with a mean (SD) age at disease onset of 60.2 (16.1) years. Among 6 different anti-ARS antibodies, only 1—the anti-OJ antibody—was not detected by line blot assay but by RNA immunoprecipitation. There were no significant HLA-DRB1 alleles associated with anti-ARS antibodies. All 51 patients presented with muscle limb weakness; 14 (27%) had severe limb weakness, 17 (33%) had neck muscle weakness, 15 (29%) had dysphagia, and 15 (29%) had muscle atrophy. Although patients with anti-OJ antibodies showed severe muscle weakness, the clinical presentations of antisynthetase syndrome were relatively homogeneous. In histology, perifascicular necrosis, the characteristic finding of antisynthetase syndrome, was found in 24 patients (47%). Myositis with anti-ARS antibodies responded to the combination of immunosuppressive therapy with favorable outcomes. Interstitial lung disease, found in 41 patients (80%), was more closely associated with mortality than myositis. Conclusions and Relevance Although clinical presentations of antisynthetase syndrome were relatively homogeneous, anti-OJ antibodies were associated with severe muscle involvement. Antisynthetase syndrome is a clinical and histological subset among idiopathic inflammatory myopathies.

Refractory acute disseminated encephalomyelitis with anti-galactocerebroside antibody

Acute disseminated encephalomyelitis causes multifocal demyelination in the central nerve system. Although this disease generally responds well to steroid therapy, it is occasionally steroid-resistant, leading to poor outcomes. Serological markers of prognosis are currently unavailable. We measured anti-glycolipid antibodies in 25 consecutive patients with acute disseminated encephalomyelitis, and found that four patients were positive for anti-galactocerebroside antibodies. All four patients had a poor response to steroids. We summarize clinical information on these four patients and three similar patients reported previously. This is the first report to describe concomitant involvement of the central nerve system and peripheral nervous system in anti-galactocerebroside antibody-associated acute disseminated encephalomyelitis, consistent with the location of galactocerebroside, and to document a dramatic response to repeated intravenous immunoglobulin therapy after unsuccessful steroid treatment in one patient.

Dysgeusia in a Patient with Guillain-Barré Syndrome Associated with Acute Hepatitis E: A Case Report and Literature Review

Guillain-Barré syndrome (GBS) is usually triggered by viral or bacterial infection. In addition, it was recently reported that infection with hepatitis E virus (HEV) also causes GBS. A 49-year-old man presented with acute-onset paralysis in all extremities and dysgeusia during an episode of acute hepatitis. Serological tests showed the presence of anti-HEV IgM antibodies and HEV-RNA in the serum. As an electrophysiological examination showed acute demyelinating polyradiculoneuropathy, the patient was diagnosed as HEV-associated GBS. Following the initiation of treatment with intravenous immunoglobulin, his paralysis and dysgeusia rapidly improved. This case suggests that HEV-associated GBS may rarely be complicated by dysgeusia.

Serum Uric Acid Concentration is Linked to Wearing-off Fluctuation in Japanese Parkinson's Disease Patients

BACKGROUND Serum uric acid (UA) concentration is linked to the risk of progression of Parkinsons disease (PD). OBJECTIVES The aim of this study was to examine the association between serum UA concentration and the occurrence of wearing-off fluctuation (WOF) in Japanese PD patients. METHODS A total of 123 Japanese patients with PD were enrolled in this study. We collected data on demographics, clinical features, medications, and laboratory findings including serum UA concentration, and examined the presence of WOF. The association between serum UA concentration and WOF was assessed using multivariate logistic regression analysis. RESULTS After adjusting for possible confounders, it was found that the odds ratio (OR) for WOF decreased with increasing quartile of UA (highest quartile vs. lowest quartile, adjusted OR 0.218, 95% confidence interval [CI] 0.053-0.891). This association was significant only in male PD patients, regardless of the use of sex-specific quartiles of UA. Additionally, disease duration (OR 7.80, 95% CI 2.62-23.17) and daily levodopa dosage (OR 4.06, 95% CI 1.45-11.38) were associated with the occurrence of WOF. CONCLUSIONS Our results showed that serum UA concentration was associated with the occurrence of WOF. Serum UA concentration may be a predictive factor for WOF.

Impulse control disorders and punding in Perry syndrome

Impulse control disorders (ICDs) are psychiatric conditions characterized by poor impulse control such as pathological gambling, hypersexuality, compulsive shopping, compulsive eating, explosive aggressive behavior, reckless driving, and reckless generosity [1,2]. Punding is defined as a complex prolonged, purposeless, and repetitive behavior. It has been increasingly recognized that ICDs and punding are more prevalent in patients with Parkinsons disease (PD) compared with a normal population [1], most likely due to dopaminergic therapy such as levodopa plus pramipexole and ropinirole [3]. Perry syndrome is a rare autosomal dominant neurodegenerative disorder caused by DCTN1 mutations. Parkinsonism is one of the most characteristic features of patients with Perry syndrome, along with apathy/depression, unexpected weight loss, and central hypoventilation [4]. Parkinsonism that occurs in patients with Perry syndrome generally responds well to high dose of dopaminergic therapy; however, to date, neither ICDs nor punding have been reported in patients with Perry syndrome. Herein, we describe two Japanese patients with Perry syndrome who developed ICDs and punding after initiation of dopaminergic therapy. Both patients were from the same family pedigree whomwe previously reported (Fig. 1A).

Impact of initial symptom for accurate diagnosis of vertebral artery dissection

Background It has been recognized that spontaneous vertebral artery dissection without neurological symptoms is not rare and easily misdiagnosed. Clinical clue for diagnosis of vertebral artery dissection includes initial symptoms such as headache, neck pain, or dizziness. Aim To assess the role of initial symptoms for diagnosis of spontaneous vertebral artery dissection. Methods Between September 2007 and January 2014, we retrospectively reviewed clinical records of 83 patients with unilateral vertebral artery dissection without consciousness disturbance at admission. Based on the diagnostic criteria of the Spontaneous Cervicocephalic Arterial Dissections Study, the patients were divided into three groups: possible, probable, and definite cases of vertebral artery dissection. Initial symptoms were collected at the time of diagnosis from medical record for the presence or absence of headache, neck pain, tinnitus and vertigo, as well as the area of pain and its characteristics. Results The numbers of definite, probable, and possible vertebral artery dissection were 39, 26, and 18, respectively. Out of 83 cases, unilateral or bilateral headache was the most commonly seen (in 60 cases), followed by neck pain (in 41 cases) and vertigo (in 20 cases). Statistically, unilateral headache and/or neck pain was more common in cases with definite vertebral artery dissection group compared with other classification of the Spontaneous Cervicocephalic Arterial Dissections Study (P = 0.040). Vertigo was also associated with the stratification of Spontaneous Cervicocephalic Arterial Dissections Study criteria (P = 0.012). Conclusions In our study, headache and/or neck pain, especially unilateral presentation, and vertigo were symptoms associated with the stratification of Spontaneous Cervico-cephalic Arterial Dissections Study criteria. Physicians should carefully obtain clinical history for the presence of a unilateral headache and/or neck pain and vertigo when vertebral artery dissection is suspected in patients with or without objective neurological signs.

Time course of diffusion weighted image and apparent diffusion coefficient in acute spinal cord infarction: A case report and review of the literature.

An 80-year-old woman was admitted to our hospital with acute onset of flaccid paraplegia and sensory and urinary disturbances that developed soon after acute pain in her lower back and leg. Neurological examination revealed, severe flaccid paraplegia, bladder and rectal disturbances and dissociated sensory loss below the level of L1 spinal cord segment. MR imaging with T2 weighted imaging (T2WI) and diffusion weighted imaging (DWI) on day 2 showed hyper signal intensity in the spinal cord at the vertebral level of L1 while initial apparent diffusion coefficient (ADC) showed decreased signal intensity in the lesion. We diagnosed spinal cord infarction, and anticoagulant and neuroprotective agents were administrated. Serial MRI findings revealed that the DWI signal of the lesion attenuated with time, and pseudo-normalization of the ADC occurred approximately 1 month after onset. These findings were similar to those seen in brain infarction. Our patient demonstrated serial MRI changes of spinal cord infarction showing anterior spinal cord syndrome.

Utility of the Japanese version of the 9-item Wearing-off Questionnaire

BACKGROUND AND PURPOSE The 9-item Wearing-off Questionnaire (WOQ-9) is a useful tool for screening of wearing-off. We performed a validation study of the Japanese version of the WOQ-9 (JWOQ-9) using a cross-sectional design in Japanese Parkinsons disease (PD) patients diagnosed with sporadic PD and treated with levodopa. METHODS Subjects with severe dementia, uncontrolled psychiatric comorbidities, and previous PD neurosurgery were excluded. The wearing-off phenomenon was detected according to the JWOQ-9, and the results were compared with independent evaluations of wearing-off conducted by PD specialists blinded to the JWOQ-9 results. To validate the JWOQ-9, a sample size of at least 70 patients with wearing-off and 70 patients without wearing-off was required. Therefore, a total of 180 patients (101 patients with wearing-off and 79 patients without wearing-off) were enrolled. RESULTS The sensitivity, specificity, positive predictive value, and negative predictive value of the JWOQ-9 were 94.1%, 39.2%, 66.4%, and 83.8%, respectively. Motor symptom questions demonstrated both moderate sensitivity (58.1-87.3%) and specificity (60.4-87.5%). In contrast, non-motor symptom questions demonstrated fair to moderate sensitivity (51.5-64.6%), with high specificity (80.0-94.1%). Like the original WOQ-9, the JWOQ-9 exhibits significant value for detecting possible wearing-off. CONCLUSIONS The JWOQ-9 is a useful screening tool for detecting wearing-off of both motor and non-motor symptoms.