杉山 淳比古

We herein report a case of seronegative immune-mediated necrotizing myopathy (IMNM) concurrent with anti-Kv1.4 and anti-titin antibodies. A 72-year-old Japanese woman presented with a 29-year history of fluctuating high serum creatine kinase (CK) levels followed by intermittent ptosis and respiratory muscle weakness. This case highlights the fact that marked respiratory muscle weakness requiring intubation can be seen in an ambulant patient with IMNM. Marked respiratory muscle weakness, rhabdomyolysis-like acute elevation of CK levels, and anti-striational muscle antibodies may be a characteristic constellation of findings in a distinct subgroup of patients with inflammatory myopathy with myasthenia gravis or similar symptoms.

We describe a 48-year-old man, suffering from difficulties in closing his eyes. He subsequently experienced progressive weakness in the facial and bulbar regions and upper limbs. His father and paternal grandmother had limb weakness as initial manifestations and were diagnosed with amyotrophic lateral sclerosis (ALS). In the present case, neuroimaging and laboratory studies were unremarkable, and neurophysiological studies disclosed diffuse denervation. Genetic testing identified a heterozygous c.10A>G, p.K4E (K3E) variant in superoxide dismutase 1 (SOD1) gene, and he was diagnosed with familial ALS. In ALS, facial muscles are rarely involved as an initial symptom. The present patient is a first case of facial onset ALS with K3E variant in SOD1 gene. Two case reports identified facial palsy as an initial manifestation in familial ALS with C6G variant in SOD1 gene. Several ALS patients with variants in SOD1 gene may have facial onset history.

Pareidolia is a visual illusion of meaningful objects that arise from ambiguous forms embedded in visual scenes. Previous studies showed that pareidolias are frequently observed in patients with Parkinson's disease (PD) as well as dementia with Lewy bodies. However, whether pareidolias are useful for differentiating PD from other neurodegenerative parkinsonism disorders including multiple system atrophy (MSA) is unclear. The noise pareidolia test (NPT) was performed in 40 and 48 patients with PD and MSA, respectively. A receiver operating characteristic (ROC) curve analysis was used to evaluate sensitivity and specificity. Results of neuropsychological tests were also compared between patients with PD with and without pareidolias. Visual hallucinations were present in none of the subjects. Pareidolic response in the NPT was observed in 47.5% and 18.8% of patients with PD and MSA, respectively. The number of pareidolic responses in patients with PD was significantly larger compared with patients with MSA (P=0.001). ROC curve analyses showed the sensitivity and specificity at 33% and 98%, respectively. Among patients with PD, those with pareidolias demonstrated higher State-Trait Anxiety Inventory-state (P=0.044) and State-Trait Anxiety Inventory-trait (P=0.044) than those without pareidolias. Pareidolias can be found in patients with PD without visual hallucinations, and the pareidolia test may be a highly specific test for differentiating PD from MSA. Thus, anxiety may be associated with pareidolias in patients with PD.

BACKGROUND: Individuals with early-onset Alzheimer disease (EOAD) differ from those with late-onset Alzheimer disease (LOAD) not only in genetics and age at onset but also in their clinical symptoms. OBJECTIVE: To differentiate the neuropathological and neurocognitive features of EOAD and LOAD by comparing the pattern of regional gray matter volume (GMV) reduction and its symptomatic correlates. METHOD: Three-dimensional T1-weighted MRIs and Mini-Mental State Examination (MMSE) scores were obtained from 12 individuals with EOAD, 65 with LOAD, and 49 healthy controls (HC). Regional GMV reduction between the three groups was assessed using voxel-based morphometry. Multiple regression analyses were conducted with MMSE total score as an independent variable. RESULTS: Compared to the HC, both AD groups showed a significant GMV reduction in the bilateral hippocampus and the left temporoparietal junction; in addition, the LOAD group showed one in the bilateral anterior temporal lobes. Multiple regression analyses revealed a positive correlation between MMSE total score and GMV in the left anterior temporal lobe in both AD groups; that is, lower scores were associated with reduced GMV. Interestingly, a positive correlation in hippocampal GMV was revealed only in the LOAD group. CONCLUSION: MMSE total score is associated with the anterior temporal lobe volume in individuals with AD. Hippocampal volume and its relationship with MMSE total score are associated with LOAD pathophysiology but not EOAD pathophysiology. The hippocampal volume reduction and low MMSE scores are hallmarks of LOAD but are less specific to EOAD, which may cause a delay in diagnosis.

Background: Mepolizumab is an option for add-on therapy in cases of refractory or relapsing eosinophilic granulomatous polyangiitis (EGPA). However, it has not been fully investigated if add-on mepolizumab is effective for active refractory or active relapsing EGPA patients with life- and/or organ-threatening manifestations, especially with severe neuropathy. Case presentation: We herein report on a 63-year-old man with severe progressive neuropathy secondary to active relapsing EGPA. In this case, the optimal dose of glucocorticoids and cyclophosphamide could not be used because of glaucoma and signet ring cell carcinoma. Add-on therapy of mepolizumab showed prompt immunological remission and marked improvement in neurological manifestations. Conclusions: Mepolizumab can be considered as an important induction therapy option for active relapsing or refractory EGPA. It has the potential to effectively improve neurological disturbances associated with severe neuropathy in EGPA.

PURPOSE: The purpose of this study was to evaluate the delineation of nerve fiber bundles in the brainstem and optic radiation in infants associated with aging on T1WI, T2WI, and phase difference-enhanced (PADRE) images. MATERIALS AND METHODS: We retrospectively reviewed 21 consecutive subjects < 2 years old who underwent brain MRI without abnormal imaging findings. Two neuroradiologists evaluated the eight nerve fiber bundles in the brainstem and optic radiation using a 3-point scale focused on the contrast to surrounding brain parenchyma. We also evaluated the signal ratio of the optic radiation to surrounding white matter on PADRE for each month age. RESULTS: T2WI was able to delineate nerve fiber bundles better than T1WI at 1 month old, and the images gradually became unclear with aging. On PADRE, almost all nerve fiber bundles were unclear or invisible at 1 month old but gradually became clearer with aging. There was a significant negative correlation between age and the signal ratio of the optic radiation to surrounding white matter. CONCLUSIONS: The PADRE imaging was able to delineate the nerve fiber bundles in infants, and the delineation gradually became clearer with aging. The combination of PADRE, T1WI, and T2WI would be useful for evaluation of nerve fiber bundles in infants.

Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder caused by a CAG nucleotide repeat expansion in atrophin 1. A previous report described cerebellar white matter lesions on magnetic resonance imaging (MRI) in elderly-onset DRPLA patients, but this finding has not been fully investigated in a total population of DRPLA patients, including juvenile or early-adult onset patients. Herein, we attempted to determine the frequency, distribution pattern, and features of the cerebellar white matter lesions in 30 consecutive DRPLA patients. We also assessed the relationships between the cerebellar white matter lesions and clinical parameters and other MRI findings. The cerebellar white matter lesions were found in 43% of the 30 DRPLA patients, and in 70% of the late adult-onset DRPLA patients. In approx. Two-thirds of the patients with cerebellar white matter lesions, the lesions were localized in the paravermal area (paravermal lesions). Multiple logistic regression analyses revealed that the Fazekas grade of 'cerebral' white matter lesions was independently associated with 'cerebellar' white matter lesions. In conclusion, cerebellar white matter lesions are one of the distinctive MRI features in DRPLA patients, especially in patients with older age at onset. Cerebellar white matter lesions, as well as cerebral white matter lesions, might originate from the disease process of DRPLA itself, and they often have a characteristic distribution of paravermal lesions.

OBJECTIVE: Facioscapulohumeral muscular dystrophy (FSHD) is a heterogenetic disorder predominantly characterized by progressive facial and scapular muscle weakness. Patients with FSHD either have a contraction of the D4Z4 repeat on chromosome 4q35 or mutations in D4Z4 chromatin modifiers SMCHD1 and DNMT3B, both causing D4Z4 chromatin relaxation and inappropriate expression of the D4Z4-encoded DUX4 gene in skeletal muscle. In this study, we tested the hypothesis whether LRIF1, a known SMCHD1 protein interactor, is a disease gene for idiopathic FSHD2. METHODS: Clinical examination of a patient with idiopathic FSHD2 was combined with pathologic muscle biopsy examination and with genetic, epigenetic, and molecular studies. RESULTS: A homozygous LRIF1 mutation was identified in a patient with a clinical phenotype consistent with FSHD. This mutation resulted in the absence of the long isoform of LRIF1 protein, D4Z4 chromatin relaxation, and DUX4 and DUX4 target gene expression in myonuclei, all molecular and epigenetic hallmarks of FSHD. In concordance, LRIF1 was shown to bind to the D4Z4 repeat, and knockdown of the LRIF1 long isoform in muscle cells results in DUX4 and DUX4 target gene expression. CONCLUSION: LRIF1 is a bona fide disease gene for FSHD2. This study further reinforces the unifying genetic mechanism, which postulates that FSHD is caused by D4Z4 chromatin relaxation, resulting in inappropriate DUX4 expression in skeletal muscle.

BACKGROUND: The "hot cross bun" (HCB) sign, a cruciform hyperintensity in the pons on magnetic resonance imaging (MRI), has gradually been identified as a typical finding in multiple system atrophy, cerebellar-type (MSA-C). Few reports have evaluated the sensitivity of an HCB, including a cruciform hyperintensity and vertical line in the pons, which precedes a cruciform hyperintensity, in the early stages of MSA-C. Moreover, the difference in frequency and timing of appearance of an HCB between MSA-C and spinocerebellar ataxia type 3 (SCA3) has not been fully investigated. METHODS: This study investigated the time at which an HCB and orthostatic hypotension (OH) appeared in 41 patients with MSA-C, based on brain MRI and head-up tilt test. The MRI findings were compared with those of 26 patients with SCA3. The pontine signal findings on T2-weighted MRI were graded as 0 (no change), 1 (a vertical T2 high-intensity line), or 2 (a cruciform T2 high-intensity line), with grades 1 or 2 considered as an HCB. OH 30/15 was defined as a decrease in systolic blood pressure of > 30 mmHg or diastolic blood pressure of > 15 mmHg. RESULTS: Among the 24 patients with MSA-C within 2 years from the onset of motor symptoms, an HCB was detected in 91.7%, whereas OH 30/15 was present in 60.0%. Among the 36 patients with MSA-C within 3 years from the onset of motor symptoms, a grade 2 HCB was detected in 66.7% of those with MSA-C but in none of those with SCA-3. CONCLUSIONS: HCB is a highly sensitive finding for MSA-C, even in the early stages of the disease. A grade 2 HCB in the early stage is an extremely specific finding for differentiating MSA-C from SCA-3.

© 2019 Elsevier B.V. Background and purpose: Chorea-acanthocytosis is clinically difficult to distinguish from Huntington's disease because these disorders have similar symptoms and MR imaging findings. We evaluated the usefulness of single-case voxel-based morphometry (VBM) analysis for differentiating the two diseases as well as VBM analysis. Materials and methods: We examined five genetically proven chorea-acanthocytosis patients and 11 Huntington's disease patients to detect differences in the gray and white matter atrophic pattern by using single-case VBM analysis in each patient and their clinical findings. We also evaluated VBM analysis for a group comparison in both disease and control groups. Results: The single-case VBM analysis results demonstrated a gray matter volume loss in caudate nucleus in all 16 patients. A characteristic symmetrical white matter volume loss was detected in globus pallidus, putamen, and thalamus on both sides in all the chorea-acanthocytosis patients, but this pattern of atrophy was not seen in any of the Huntington's disease patients. With the VBM analysis, a significant gray matter volume loss was noted in caudate nucleus on both sides in chorea-acanthocytosis patients compared with Huntington's disease patients, and a more extensive white matter volume loss around the basal ganglia and thalamus was observed in chorea-acanthocytosis patients compared to Huntington's disease patients, consistent with the single-case VBM analysis results. Genetic testing identified two novel pathogenic mutations, exon 1 c.16_22delGTGGTCG and exon 55 c.7736-7739delGAGA in a chorea-acanthocytosis patient. Conclusions: Single-case VBM analysis may be useful to differentiate chorea-acanthocytosis from Huntington's disease with a focus on white matter atrophy.

BACKGROUND AND PURPOSE: Chorea-acanthocytosis, a rare neurodegenerative disease, affects both the striatum and the medial temporal lobe which may cause involuntary movements and epilepsy, respectively. We examined the imaging changes of the hippocampus/amygdala and the striatum as well as clinical symptoms. MATERIALS AND METHODS: We retrospectively reviewed 29 MRI and 13 SPECT studies and the clinical findings of seven genetically confirmed chorea-acanthocytosis patients. We evaluated the time-dependent imaging changes of the hippocampus/amygdala and striatum and examined the relationships among these images and symptoms. RESULTS: The initial symptom was epilepsy in four patients and involuntary movements in three patients. These symptoms were eventually noted in five and all seven patients, respectively. On MRI, most patients showed striatum atrophy before a hippocampus/amygdala abnormality emerged, but one patient showed a hippocampus/amygdala abnormality before striatum atrophy. Abnormal MRI findings of hippocampus/amygdala were noted in five patients and atrophy of striatum in all seven patients. SPECT demonstrated hypoperfusion of hippocampus/amygdala in three patients and that of striatum in all five available patients. Four patients demonstrated hypoperfusion of striatum earlier than that of hippocampus/amygdala and one patient showed hypoperfusion of both simultaneously. Many imaging abnormal lesions were accompanied by their corresponding symptoms, but not always so. CONCLUSION: Striatum abnormalities were the initial imaging findings in many chorea-acanthocytosis patients, but epilepsy or hippocampus/amygdala imaging abnormalities may be the only findings at the early stage. It is important to understand the detailed clinical and imaging time courses for the diagnosis of chorea-acanthocytosis.

Peripheral neuropathy is a common extracerebellar manifestation of spinocerebellar ataxia type 3 (SCA3). However, to date, only a few SCA3 case reports have described the development of neuropathy before the emergence of apparent cerebellar signs. We herein report a case of very late-onset SCA3 in which preceding peripheral neuropathy seemingly concealed cerebellar signs, with seven years lapsing from the onset to the diagnosis. Horizontal gaze-evoked nystagmus and brain magnetic resonance imaging (MRI) findings prompted genetic testing, which confirmed the diagnosis of SCA3. A careful follow-up of neurological findings, such as nystagmus, and brain MRI are imperative for such cases.

Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant spinocerebellar ataxia caused by CAG triplet expansion in atrophin 1 and is frequently associated with cerebral white matter lesions. To elucidate the clinical features of elderly onset DRPLA and the key radiological findings for differentiating DRPLA from physiological white matter lesions in healthy elderly subjects, we reviewed the clinical and magnetic resonance imaging (MRI) features of ten patients with elderly onset genetically confirmed DRPLA (> 60 years) and compared their MRI findings with those of age- and sex-matched ten healthy subjects with asymptomatic cerebral white matter lesions. The initial symptom was cerebellar ataxia in all DRPLA patients, and five of them did not have any symptoms other than ataxia at the time of MRI examination. Atrophy of the brainstem, superior cerebellar peduncle, and cerebellum was detected in all DRPLA patients and none of the healthy subjects. Abnormal signals in the brainstem (inferior olive, pons, and midbrain), thalamus, and cerebellar white matter were frequently observed in elderly onset DRPLA patients but not in healthy subjects. In conclusion, elderly onset DRPLA presents as cerebellar ataxia alone in the early stage of disease. Atrophy of the brainstem, superior cerebellar peduncle, and cerebellum and abnormal signals in the brainstem, cerebellum, and thalamus are key findings for differentiating elderly onset DRPLA from asymptomatic cerebral white matter lesions in healthy subjects.

Parkinson's disease (PD) is caused by a selective degeneration of dopamine neurons. The relationship between dopamine transporter (DAT) density and gray matter volume has been unclear. Here we investigated the voxelwise correlation between gray matter volume and DAT binding measured by I-123-N-omega-fluoropropyl-2 beta-carboxymethoxy-3 beta-(4-iodophenyl)nortropane (I-123-FP-CIT) single-photon emission computed tomography (SPECT; DaTscan (TM) imaging) in PD. Thirty-one male patients with PD were examined with MRI and DaTscan. To measure nigrostriatal dopaminergic degeneration in PD, the specific binding ratio (SBR) of the striatum was obtained by DaTscan. Voxel-based morphometry (VBM) of 3D T1-weighted images was used to evaluate the relationships between the regional gray matter volume and the SBR in the striatum. There were significant positive correlations between the SBR and the gray matter volume in the right pulvinar and posterior middle temporal gyrus and a trend level in the left pulvinar, all of which are associated with the second visual pathway. The nigrostriatal dopaminergic degeneration might affect the secondary visual pathway, leading to visual dysfunctions in PD.

Neuronal intranuclear inclusion disease is a neurodegenerative disorder pathologically characterized by eosinophilic hyaline intranuclear inclusions. A high-intensity signal along the corticomedullary junction on DWI has been described as a specific MR imaging finding of the cerebrum in neuronal intranuclear inclusion disease. However, MR imaging findings of the cerebellum in neuronal intranuclear inclusion disease have not been fully evaluated. Here, we review MR imaging findings of the cerebellum in a series of 8 patients with pathologically confirmed neuronal intranuclear inclusion disease. The MR imaging results showed cerebellar atrophy (8/8 patients) and high-intensity signal on FLAIR images in the medial part of the cerebellar hemisphere right beside the vermis (the "paravermal area") (6/8) and in the middle cerebellar peduncle (4/8). The paravermal abnormal signals had a characteristic distribution, and they could be an indicator of the diagnosis of neuronal intranuclear inclusion disease even when using the results of past MR imaging examinations in which DWI findings were not examined.

This study aimed to investigate abnormalities in structural covariance network constructed from gray matter volume in myotonic dystrophy type 1 (DM1) patients by using graph theoretical analysis for further clarification of the underlying mechanisms of central nervous system involvement. Twenty-eight DM1 patients (4 childhood onset, 10 juvenile onset, 14 adult onset), excluding three cases from 31 consecutive patients who underwent magnetic resonance imaging in a certain period, and 28 age-and sex-matched healthy control subjects were included in this study. The normalized gray matter images of both groups were subjected to voxel based morphometry (VBM) and Graph Analysis Toolbox for graph theoretical analysis. VBM revealed extensive gray matter atrophy in DM1 patients, including cortical and subcortical structures. On graph theoretical analysis, there were no significant differences between DM1 and control groups in terms of the global measures of connectivity. Betweenness centrality was increased in several regions including the left fusiform gyrus, whereas it was decreased in the right striatum. The absence of significant differences between the groups in global network measurements on graph theoretical analysis is consistent with the fact that the general cognitive function is preserved in DM1 patients. In DM1 patients, increased connectivity in the left fusiform gyrus and decreased connectivity in the right striatum might be associated with impairment in face perception and theory of mind, and schizotypal-paranoid personality traits, respectively.

Background White matter hyperintensities (WMH) in the cholinergic pathways are associated with cognitive performance in Alzheimer's disease. This study aimed to evaluate the relationship between the volume reduction of cholinergic pathways and cognitive function in patients with multiple sclerosis (MS). Methods Thirty-two MS patients underwent a brain MRI and cognitive measurements including the Mini-Mental State Examination (MMSE) and the Japanese version of the Montreal Cognitive Assessment (MoCA-J). The extent of WMH within the cholinergic pathways was assessed using the Cholinergic Pathways Hyperintensities Scale (CHIPS). Computerized WMH volumes were also obtained. FreeSurfer was used to measure regional volumes including the cortical and subcortical volumes. The correlations among the CHIPS, the WMH volume, and the clinical data were assessed, in addition to the correlations between the cognitive scores and regional volumes measured by FreeSurfer. Results The CHIPS score and the WMH volume were strongly positively correlated with each other (r = 0.87, P &lt 0.001). The CHIPS score had significantly negative correlations with the MMSE (r = − 0.49, P = 0.003) and the MoCA-J (r = − 0.47, P = 0.005) results. The WMH volume had significantly negative correlations with the MMSE (r = − 0.54, P = 0.001) and the MoCA-J (r = − 0.57, P &lt 0.001) results. In the analysis by FreeSurfer, both the MMSE and MoCA-J scores had significant positive correlations only with the volume of the corpus callosum. Conclusions The CHIPS score tended to be less sensitive to the WMH volume in cognitive function evaluation, although the difference did not reach the level of statistical significance. Thus the CHIPS method may not be as effective in MS patients.

A dural arteriovenous fistula (DAVF) with spinal perimedullary venous drainage can cause progressive myelopathy, and it is sometimes incorrectly diagnosed as another spinal cord disease. Here we report the cases of three individuals with a DAVF (one craniocervical junction DAVF and two tentorial DAVFs) with progressive myelopathy showing unique magnetic resonance (MR) imaging findings. MR T2*WI or susceptibility-weighted imaging (SWI) demonstrated symmetrical dark signal intensity lesions predominantly in the dorsal aspect of medulla and the central gray matter of cervical spinal cord that showed the "black butterfly" silhouette. Cerebral angiography revealed DAVFs draining into anterior and posterior spinal veins. Dark signals on T2*WI and SWI were presumed to be hemorrhages, which were probably caused by prolonged venous congestion. Identifying this "black butterfly" sign can facilitate the diagnosis of DAVF, differentiating DAVF from other spinal cord diseases such as demyelinating lesions and neoplasms. (C) 2017 Elsevier B.V. All rights reserved.

Purpose: The aim of this study was to investigate interictal cerebral blood flow (CBF) distributions and graph theoretical networks in idiopathic generalized epilepsy (IGE) using arterial spin labeling (ASL) imaging and anatomical covariance methods of graph theoretical analysis. Material and methods: We recruited 19 patients with IGE and 19 age-/gender-matched healthy controls. Their CBF images were obtained by pseudo-continuous ASL imaging and compared using statistical parametric mapping 8 software (SPM8) and Graph Analysis Toolbox (GAT). Results: The ASL imaging could detect interictal hypoperfusion in the thalamus, upper midbrain, and left cerebellum in IGE. Additionally, the graph theoretical analyses revealed characteristic findings of the CBF network of IGE, including significantly reduced resilience to attacks and changes of regional clustering especially in the bilateral temporo-occipital areas and lateral frontal lobes. There was no significance in the comparisons of network metrics. Conclusion: These findings could contribute to a better understanding of the pathophysiology of ICE. (C) 2016 Elsevier B.V. All rights reserved.

An 87-year-old woman presented with a 3-month history of fever, edema of the lower legs, and gait disturbance. A laboratory examination revealed high serum levels of myeloperoxidase-specific antineutrophil cytoplasmic antibody (MPO-ANCA). Although microscopic polyangiitis was initially suspected and treated, the patient subsequently developed transient hemiparesis and disturbed consciousness. Brain magnetic resonance imaging/angiography revealed infarct-like lesions, pachymeningeal involvement, and diffuse cerebral vasoconstriction. A random skin biopsy confirmed the histological diagnosis of intravascular lymphoma. Diffuse cerebral vasoconstriction and a high serum MPO-ANCA level have rarely been reported in patients with intravascular lymphoma. Endothelial damage due to immune-mediated mechanisms, tumor derived factors, or the direct interaction of lymphoma cells with endothelial cells may commonly predispose patients to both cerebral vasoconstriction and the development of ANCAs.

A 61-year-old woman presented with a 10-month history of gait disturbance and a 7-month history of urinary incontinence. The Hasegawa dementia scale-revised score indicated cognitive impairment. Brain magnetic resonance imaging (MRI) indicated hydrocephalus with disproportionately enlarged subarachnoid space. This is usually considered a characteristic finding in idiopathic normal pressure hydrocephalus (iNPH). Ventriculo-peritoneal shunting improved the patient's symptoms. Neurosarcoidosis was suspected as a cause of the hydrocephalus because of the abnormalities in the cerebrospinal fluid and the abnormal enhancement of the cauda equina, the leptomeninges of the brainstem, and the spinal cord, as seen on MRI with gadolinium enhancement. A biopsy from the mediastinum lymph nodes confirmed the histological diagnosis of sarcoidosis. Physicians should consider the possibility of neurosarcoidosis in patients presenting with hydrocephalus, even in cases where clinical and radiological data are characteristic of iNPH.

Background: MSA is clinically classified into two phenotypes: parkinsonism predominant (MSA-P) and cerebellar ataxia predominant (MSA-C). However, little is known about the differences in urinary dysfunctions between MSA-C and MSA-P. We investigated the differences in urinary and cardiovascular dysfunctions between MSA-C and MSA-P.Methods: We retrospectively reviewed the medical records of patients with MSA diagnosed as having probable or possible MSA according to Gilman's second consensus criteria from January 2007 to September 2013 in our hospital. Data regarding the initial symptoms, onset of urinary symptoms, and results of urodynamic (including anal sphincter electromyography) and head-up tilt tests were collected.Results: A total of 100 patients with MSA, including 59 patients with MSA-C and 41 with MSA-P, were reviewed. Initial symptoms were autonomic (n = 12) and cerebellar (n = 47) in the MSA-C phenotype and were autonomic (n = 14) and parkinsonian (n = 27) in the MSA-P phenotypes. Urodynamic study indicated that bladder contraction was more severely impaired in patients with MSA-P than in those with MSA-C. In the head-up tilt test, the decrease in diastolic blood pressure was significantly larger in the MSA-P phenotype than that in the MSA-C phenotype. Acontractile bladder during the pressure flow study increased likelihood that the phenotype is MSA-P (odds ratio: 6.67; 95% confidence interval: 1.004-44.284; P = 0.050).Conclusions: Urinary dysfunctions were more severe in MSA-P compared with MSA-C. Detailed urodynamic study was helpful for detecting subtle differences between MSA-C and MSA-P.

Trigeminal root entry zone abnormality on brain magnetic resonance imaging has been frequently reported in multiple sclerosis patients, but it has not been investigated in neuromyelitis optica patients. Brain magnetic resonance imaging of 128 consecutive multiple sclerosis patients and 46 neuromyelitis optica patients was evaluated. Trigeminal root entry zone abnormality was present in 11(8.6%) of the multiple sclerosis patients and two (43%) of the neuromyelitis optica patients. The pontine trigeminal root entry zone may be involved in both multiple sclerosis and neuromyelitis optica. (C) 2015 Elsevier B.V. All rights reserved.

To study distribution and patterns of nerve hypertrophy in chronic inflammatory demyelinating polyneuropathy (CIDP), magnetic resonance neurography with 3-dimensional reconstruction of short tau inversion recovery images was performed in 33 patients. This technique clearly showed longitudinal morphological changes from the cervical roots to the nerve trunks in the proximal arm. Nerve enlargement was detected in 88% of the patients. According to the clinical subtype of CIDP, typical CIDP patients showed symmetric and root-dominant hypertrophy, whereas Lewis-Sumner syndrome patients had multifocal fusiform hypertrophy in the nerve trunks. The patterns of nerve hypertrophy presumably reflect the different pathophysiology of each CIDP subtype. Ann Neurol 2014.

Objective: To identify useful MRI abnormalities in the putamen for diagnosing multiple system atrophy. Methods: Patients with multiple system atrophy (n = 15), Parkinson's disease (n = 16), or progressive supranuclear palsy (n = 9) and healthy controls (n = 10) were enrolled. Using a visual analog scale, 4 examiners independently rated high-intensity signals along the lateral putamen on T2-weighted and T2*-weighted images, low-intensity signals within the putamen on T2-weighted and T2*-weighted images, and putaminal atrophy. Receiver operating characteristic analyses were performed, and the area under the receiver operating characteristic curve was calculated. Results: For differentiating multiple system atrophy from progressive supranuclear palsy, Parkinson's disease, and healthy controls, the mean area under the curve values was the highest for low-intensity signals within the putamen on T2*-weighted images (0.797, 0.867, 0.896, respectively). Variations in the area under the curve values among the 4 examiners were the smallest in low-intensity signals within the putamen on T2*-weighted images. Good inter-rater reliability was achieved for low-intensity signals within the putamen on T2*-weighted images and high-intensity signals along the lateral putamen on T2*-weighted images. Conclusion: Low-intensity signals within the putamen on T2*-weighted images is the most useful MRI abnormality for diagnosing multiple system atrophy. (C) 2015 Elsevier B.V. All rights reserved.

Myeloid sarcoma is a rare hematological disorder that presents as an extramedullary mass of immature myeloid precursors. We herein present the case of a 57-year-old man with a seven-month history of progressive weakness in the right upper extremity. Reconstruction magnetic resonance neurography showed a marked enlargement of the right brachial plexus. Fluorodeoxyglucose positron emission tomography revealed a radioactive lesion in the sacrum, in addition to the right brachial plexus, and a biopsy of the sacrum revealed myeloid sarcoma. The brachial plexus lesion was also regarded as myeloid sarcoma because of the treatment response. Isolated myeloid sarcoma involving the brachial plexus is very rare and its diagnosis is difficult as there was neither a history of leukemia nor bone marrow involvement in this patient. In this case, reconstructed magnetic resonance neurography was useful for detecting the brachial plexus mass lesion which led to an early diagnosis and good recovery.

Helicobacter cinaedi, a gram-negative spiral bacillus that inhabits the intestinal tracts of rodents and primates, is associated with gastroenteritis in humans. H. cinaedi infection has been commonly reported in immunocompromised individuals such as human immunodeficiency virus-infected patients, but rarely in immunocompetent individuals. Prior contact with animals has attracted attention as a possible Source of H. cinaedi infection. We report a case of meningitis in an immunocompetent 34-year-old woman who had daily contact with a kitten for a month. She developed acute headaches, fevers, and chills. Neurological examination revealed neck stiffness and her cerebrospinal fluid (CSF) exhibited polymorphonudear pleocytosis and a decreased concentration of glucose. Blood and CSF cultures were negative; however, the pathogen responsible for her condition was identified as H. cinaedi by polymerase chain reaction in CSF. This is the first adult case of meningitis caused by H. cinaedi. Thus, this bacillus should be considered a possible causative agent of bacterial meningitis in healthy adults. (C) 2013 Published by Elsevier B.V.

A 72-year-old man presented with dizziness and left hand muscle atrophy. Magnetic resonance imaging revealed a spinal cord cavity and descent of the cerebellar tonsils. His diagnosis was Chiari I malformation with syringomyelia. No cerebellar signs were observed on physical examination. The cause of dizziness was investigated using a video-based eye movement tracker, which revealed a downward smooth pursuit velocity gain significantly below normal when expressed relative to the horizontal pursuit velocity gain. Vestibulocerebellar damage can cause mild downward pursuit deficit. The downward to horizontal smooth pursuit velocity gain ratio may be a more sensitive means of detecting vestibulocerebellar damage early.