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Patients with Parkinson’s disease or stroke show symptoms of motor disorders that disturb gait and mobility. Although the objective and/or quantitative assessment of the rehabilitation to evaluate the degree of improvement is significantly important, three-dimensional (3D) motion capture systems to evaluate body movement are very expensive and require many markers attached to patients. The purpose of this study was to investigate the feasibility of medical and healthcare ICT-supported rehabilitation assistance systems for 3D gait analysis using low-cost markerless motion capture devices in response to practical clinical needs. The clinical data obtained by our system showed that there were significant differences between the patient group and the healthy subject group.

Background: Cerebellar ataxia including spinocerebellar ataxia and Parkinson’s disease are neurodegenerative disorders clinically characterized by motor disabilities including gait disturbance. This study aimed to investigate the usefulness of an infrared depth sensor device to quantitatively evaluate gait disturbances and assess its cost effectiveness in patients with movement disorders. Methods: Twenty five ataxic, twenty five Parkinson’s disease, and twenty five control subjects were enrolled and evaluated their walk over a short distance. Stride length, feet interval, gait rhythm, and a ratio of the actual walking route length to the linear distance between the start and goal points (A/L ratio) were assessed and compared between ataxic or Parkinson’s disease subjects and control subjects. Outcome correlations with clinical scales were also analyzed in the disease groups. Results: The average stride length was shorter in ataxic subjects or Parkinson’s disease subjects than in control subjects. The average feet interval was larger in ataxic subjects than in control subjects. The stride length coefficient of variation (CV), gait rhythm CV, and average and standard deviations of the A/L ratio were larger in ataxic or Parkinson’s disease subjects than in control subjects. Ataxic subjects exhibited significant positive correlations between the CV of stride length or average feet interval and scale for the assessment and rating of ataxia scores or international cooperative ataxia rating scale scores. Parkinson’s disease subjects exhibited a significant correlation between the average stride length, CV of stride length, or standard deviation of A/L ratio and unified Parkinson's disease rating scale score. Conclusion: The device used in this study differentiated the characteristics of gait disturbance in each movement disorder and quantitatively evaluated ataxia or Parkinson’s disease severity, indicating its potential clinical utility across applications.

To elucidate clinically useful imaging characteristics of multiple system atrophy with predominant cerebellar ataxia (MSA-C) at the initial stage showing pure cerebellar ataxia but unfilling consensus criteria (MSA-pc), clinical and neuroradiological analyses on cerebral MRI and single-photon emission computed tomography (SPECT) for measuring regional cerebral blood flow (rCBF) were performed. Seven MSA-pc patients meeting the above condition at an initial evaluation were identified, and all the MSA-pc patients later developed autonomic dysfunction and finally fulfilled the criteria for probable or possible category of MSA-C. For comparison, two patients with spinocerebellar ataxia type 6 and three patients with idiopathic cerebellar ataxia who did not exhibit autonomic dysfunction for more than three years were enrolled in this study (non-MSA-pc). As non-ataxic controls without cerebellar involvement, seven patients with Parkinson's disease were also enrolled. As a result, MRI analysis clarified a smaller pontine area and significant laterality of middle cerebellar peduncle (MCP) width in MSA-pc in comparison to non-MSA-pc and controls. SPECT analysis revealed that pontine rCBF was reduced even at the initial stage of MSA-pc. Moreover, the laterality of cerebellar rCBF values and the laterality of MCP width in MSA-pc patients exhibited a significant positive correlation, indicating anatomical and functional laterality of afferent projections to cerebellum is a characteristic finding for MSA-pc. These neuroimaging characteristics could be clinically useful to consider the possibility of the criteria-unfulfilled MSA and promote an earlier intervention after obtaining a diagnosis of probable MSA-C.

Spinocerebellar ataxia type 36 (SCA36) is a noncoding repeat expansion disorder caused by an expanded GGCCTG hexanucleotide repeat (HNR) in the first intron of the nucleolar protein 56 (NOP56) gene. Another disease-causing HNR expansion derived from C9orf72-linked GGGGCC repeats that form G-quadruplexes (GQs) affects genetic stability, RNA splicing, and mRNA localization within neurites. The porphyrin derivative TMPyP4 was shown to ameliorate RNA toxicity caused by GGGGCC HNR expansion by binding and distorting RNA GQ structures. SCA36 GGCCTG HNRs can potentially form RNA GQs; therefore, we investigated whether several porphyrin derivatives could reduce RNA toxicity in SCA36 cell models. Among these, sodium copper chlorophyllin and hemin chloride, which have already been used in clinical practice, reduced SCA36 GGCCTG expansion-mediated cytotoxicity and improved cell viability. These data suggest that porphyrins are potential therapeutic candidates against SCA36 pathogenesis.

The patient was a 70-year-old man with idiopathic orbital inflammation (IOI) that appeared on the severely affected side of preceding myasthenia gravis (MG). The patient was diagnosed with MG 5 years prior to the onset of IOI. When IOI was diagnosed, an edrophonium test was negative. IOI was considered because he complained of left orbital pain, eyelid swelling, and cerebral MRI exhibited the enhanced lesions along the left orbital periosteum. A biopsy specimen revealed pathological findings compatible with IOI. The administration of corticosteroids was effective for improving the ocular symptoms. IOI should be considered when ocular symptoms deteriorated with soft tissue swelling/pain in MG patients.

A 36-year-old immunocompetent pregnant woman with Cryptococcus gattii meningoencephalitis complicated by immune reconstitution inflammatory syndrome (IRIS)-like syndrome was reported. She developed postpartum paradoxical expansion of cerebrocerebellar lesions on MRI after initiation of antifungal therapy, and these lesions were successfully treated by steroid therapy. The potential for postpartum development of IRIS-like syndrome associated with Cryptococcus gattii infection should be recognized. Steroid therapy is effective for managing IRIS-like syndrome, and long-term steroid therapy should be considered in severe conditions.

We report four adult cases of ceftriaxone (CTRX)-induced pseudolithiasis and nephrolithiasis. With the exception of case 1, none of our cases showed abdominal symptoms. Our patients, who had central nervous system (CNS) infections, had been treated with CTRX (4 g/day) for 35-69 days. CTRX-induced pseudolithiasis and nephrolithiasis can appear depending on the total dose of CTRX and the duration for which it is administered. Patients with bacterial CNS infections who are treated with CTRX are typically treated with higher doses for longer periods. It should be recognized that these patients are at higher risk of developing CTRX-induced pseudolithiasis and nephrolithiasis.

Neuroimages of cerebral amyloid-β (Aβ) accumulation and small vessel disease (SVD) were examined in patients with various types of cognitive disorders using 11C-labeled Pittsburgh Compound B-positron emission tomography (PiB-PET) and magnetic resonance imaging (MRI). The mean cortical standardized uptake value ratio (mcSUVR) was applied for a quantitative analysis of PiB-PET data. The severity of white matter lesions (WML) and enlarged perivascular spaces (EPVS) on MRI were assessed to evaluate complicating cerebral SVD using semiquantitative scales. In homozygous apolipoprotein E ɛ3/ɛ3 carriers, the incidence of more severe WML and EPVS was higher in PiB-positive than PiB-negative patients, indicating that WML and EPVS might be associated with enhanced Aβ accumulation. An association study between PiB-PET and MRI findings revealed that higher WML grades significantly correlate with lower mcSUVRs, especially in the frontal area, indicating that more severe ischemic MRI findings are associated with milder Aβ accumulation among patients with Alzheimer's disease. In these patients SVD may accelerate the occurrence of cognitive decline and facilitate early recognition of dementia.

A 64-year-old Japanese woman presented with a three-month history of progressive numbness and weakness of the lower extremities. A neurological examination and nerve conduction study indicated sensorimotor polyneuropathy. Since the serum anti-Hu antibody titer was remarkably elevated, paraneoplastic neurological syndrome was highly suspected. A thoracoscopic biopsy of the hilar lymph nodes, in which (18)F-fluorodeoxyglucose uptake was obviously increased, revealed pathological findings for small-cell lung cancer (SCLC). Subsequently, the patient presented with generalized tonic-clonic seizures, and cerebral MRI showed reversible multifocal brain lesions, considered to reflect paraneoplastic encephalopathy. After two courses of chemotherapy for SCLC, the brain lesions totally disappeared.

A 67-year-old woman was admitted for headache. The initial MRI showed a gadolinium-enhanced lesion in the prepontine area. Initial and repeated CSF examinations were negative for the fungal infection. Since the enhanced lesion expanded in the cisterns, and showed tumor-like appearance, brain biopsy was performed at 3 months from her first admission. Histological studies revealed filamentous fungal infection probably caused by the pseudallescheria boydii. Intrathecal miconazole injection through the Ommaya reservoir successfully ameliorated patient's symptoms and the MRI findings. Primary cisternal fungal infection showing tumor-like expansion typically fails to demonstrate its supportive findings by the CSF examination. Therefore, histopathological assessment after brain biopsy should be considered in cases that are not conclusive by means of conventional laboratory examinations.

A middle-aged male suffering from encephalopathy with cerebral amyloid angiopathy (CAA) with amyloid beta (Aβ) presented with initial symptoms of transient consciousness disturbance and left visual field photophobia. Lesions with aberrantly high signal on T2-weighted magnetic resonance imaging (MRI) of the brain appeared in the right temporal lobe posterior to the occipital lobe and spread to other areas. Brain biopsy revealed Aβ deposits in vascular walls and numerous diffuse plaques in parenchymal areas. Based on MRI findings, Initial corticosteroid therapy with beta methasone effectively improved the neurological symptoms of consciousness disturbance and motor deficits. After corticosteroid therapy was stopped at 4 weeks, recurrence occurred. Additional corticosteroids did not improve clinical symptoms and the patient progressed to a bed-ridden state with a severe consciousness disturbance. Notably, CSF Aβ1-42 and CSF Aβ1-40 decreased while the recurrent encephalopathy worsened. After intense deterioration, the patient became stable. CSF Aβ1-42 increased but remained at a very low level. This case of CAA encephalopathy with apolipoprotein E ϵ4/ϵ4 homozygosity showed Aβ deposits in vascular walls and numerous diffuse plaques in parenchymal areas. The clinical course suggests that reduction of CSF Aβ1-42 and Aβ1-40 might be related to clinical deterioration in cases of encephalopathy.

We report a 47-year-old woman with relapsed delayed radiation myelopathy (DRM), occurring 5 years and 10 years after radiation therapy for nasopharyngeal carcinoma at 37 years old. Sensations of pain and temperature had been disturbed in the right leg since 42 years old. MRI showed Gadolinium-enhanced lesion as a ring-like-enhancement of the spinal cord at C1-2 on T1-weighted image (T1WI), with high signal area and swelling of the spinal cord at the upper C1 to C6 areas on T2-weighted image. We diagnosed her as having DRM after considering the differential diagnosis, e.g., multiple sclerosis, spinal tumor and other neurological diseases. Her sensory symptoms quickly improved following therapy with prednisolone and warfarin. Although she remained healthy for a few years, dysesthesia of the neck on the right side appeared 5 years later after the first clinical occurrence. At this time, MRI demonstrated Gadolinium-enhanced lesion as a ring-like enhancement of the spinal cord at C2 on T1WI. but the area also differed from that of previous lesion; a high signal area and swelling of the spinal cord was also seen on FLAIR image of the medulla and upper C1 to C6. For recurrence of DRM, we administered prednisolone and warfarin. Thereafter, the patient recovered and the spinal cord lesion on MRI decreased markedly. The clinical course demonstrated that administration of prednisolone and warfarin might be effective for relapsed DRM.

We herein investigated the clinical features of three patients with anti-muscle-specific tyrosine kinase (MuSK) antibody-positive myasthenia gravis (MG), which was initially difficult to distinguish from amyotrophic lateral sclerosis (ALS). The patients exhibited dropped head syndrome or dysphagia as initial symptoms. Although their clinical findings were compatible with the revised El Escorial Criteria for ALS, their progression appeared to be more rapid than that of ALS. Both the edrophonium and repetitive nerve stimulation tests yielded negative results, and diurnal fluctuation was not confirmed. The patients were ultimately diagnosed with anti-MuSK antibody-positive MG. We therefore recommend the measurement of anti-MuSK antibodies when encountering such cases.