Experts use the term corticobasal syndrome (CBS) for patients with a clinical diagnosis of corticobasal degeneration (CBD), and reserve CBD for those whose conditions have been diagnosed on the basis of neuropathological analyses. Several studies demonstrated that patients with CBD may also present with progressive supranuclear syndrome (PSPS), aphasia, Alzheimer disease-like dementia or behavioral change, suggesting that CBS is merely one of the presenting phenotypes of CBD. Although previous CBD diagnostic criteria reflected only CBS, the international consortium proposed new diagnostic criteria for CBD in 2013 (Armstrong’s criteria). The new criteria include 4 CBD subtypes; CBS, frontal behavioral-spatial syndrome (FBS), nonfluent/agrammatic variant of primary progressive aphasia (naPPA)，and PSPS. These subtypes were combined to create 2 sets of criteria: more specific clinical research criteria for probable CBD (cr-CBD) and broader criteria for possible CBD that are more inclusive but have a higher chance to detect other tau-based pathologies (p-CBD). Two studies have already revealed that the sensitivity and specificity of the criteria were not high. Because therapeutic interventions that target abnormally-phosphorylated tau have started, further refinement of the criteria is needed via biomarker researches with prospective study designs.

View full abstract

Although impaired smooth-pursuit in Parkinson’s disease (PD) is well known, reports are conflicting on the ability to cancel vestibulo-ocular reflex (VOR) when the target moves with head, requiring gaze-pursuit. To compare visual tracking performance with or without passive whole-body rotation, we examined eye movements of 10 PD patients and 6 age-matched controls during sinusoidal horizontal smooth-pursuit and passive whole-body rotation (0.3 Hz, ± 10°). Three tasks were tested: smooth-pursuit, VOR cancellation, and VORx1 while subjects fixated an earth-stationary spot during whole-body rotation. Mean ± SD eye velocity gains (eye velocities/stimulus velocities) of PD patients during the 3 tasks were 0.32 ± 0.24 0.25 ± 0.22, 0.85 ± 0.20, whereas those of controls were 0.91 ± 0.06, 0.14 ± 0.07, 0.94 ± 0.05, respectively. Difference was significant between the two subject groups only during smooth-pursuit. Plotting eye-velocity gains of individual subjects during VOR cancellation against those during smooth-pursuit revealed significant negative linear correlation between the two parameters in the controls, but no correlation was found in PD patients. Based on the regression equation of the controls, we estimated expected eye velocity gains of individual subjects during VOR cancellation from their smooth-pursuit gains. Estimated gains of PD patients during VOR cancellation were significantly different from their actual gains, suggesting that different neural mechanisms operate during VOR cancellation in the controls and PD.

View full abstract

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. They were consistent with previous reports in the characteristics of involuntary movements, normal neurological findings, normal laboratory data, no abnormal findings of standard imaging studies, and good restraining effects on attacks with carbamazepine. Individual body parts where attacks often involved were different among 5 patients. Although previous reports which said the prognosis and outcome of PKC were good, neuropsychological examinations in our study revealed that 2 patients out of 5 had certain cortical dysfunction, one patient was with progressive deterioration, and the other was with underlying mild abnormalities. Detailed and serial neuropsychological examinations might be necessary for some PKC patients.

View full abstract

A 75-year-old woman presented with a 4-month history of repetitive loss of consciousness, dizziness, and ear fullness. Fluid attenuation inversion recovery magnetic resonance imaging showed high-intensity areas in the right occipital lobe, both frontal lobes, and parietal lobes, and the patient was therefore admitted to our department for further examination. Neurologic findings included a positive Barré sign (right upper extremity), impaired tandem gait, and positive left-sided Babinski reflex. The patient was diagnosed with Takayasu’s arteritis owing to a difference in blood pressure between the left and right upper extremity, weakened pulse in the left upper extremity, as well as thickened arterial wall, and delayed enhancement on a contrast-enhanced computed tomography image. The head magnetic resonance imaging findings disappeared within 4 months and the patient was diagnosed with posterior reversible encephalopathy syndrome. Posterior reversible encephalopathy syndrome associated with elderly female Takayasu’s arteritis is rare. ; the present case therefore offers valuable information.

View full abstract

Of the 11,161 cases of stroke observed for over 9 years, 21 cases in which both levels of serum albumin and cholesterol were < 3 g/dl and > 250 mg/dl, respectively, were identified. Out of these 21 cases, cases of severe proteinuria, i.e., nephrotic syndrome were selected. These included 10 cases of arterial ischemic thrombosis, 2 cases of cerebral venous sinus thrombosis, and 4 cases of intracerebral hemorrhage. The incidence of intracerebral hemorrhage associated with nephrotic syndrome was 0.18% of total stroke or 0.036% intracerebral hemorrhage. Nephrotic syndrome essentially induced a hypercoagulable state. The 4 cases with intracerebral hemorrhage associated with nephrotic syndrome, however, had strong risk factors for intracerebral hemorrhage, suggesting that they overcame the risk for thrombophilia. The diseases associated with the nephrotic syndrome were diabetic nephropathy and amyloidosis in 3 cases and in 1 case, respectively. The nephrotic syndrome tends to be associated with a risk for venous or arterial thrombosis. In addition, we must pay attention to intracerebral hemorrhage associated with nephrotic syndrome in cases of stroke.

View full abstract

We report a case of primary central nervous system vasculitis (PCNSV) diagnosed by second brain biopsy. A 53-year-old man initially presented with left lateral gaze diplopia. Brain MRI revealed multiple enhanced lesions in the bilateral frontal lobe, bilateral basal ganglia, left cerebellum and brainstem. An initial brain biopsy of the right frontal lobe suggested immune-related encephalitis with angiocentric accumulation of chronic inflammatory cells, while malignant lymphoma could not be completely ruled out. The patient deteriorated despite being treated with repeated methylprednisolone pulse therapy, cyclophosphamide, and plasmapheresis. A second brain biopsy of the right temporal lobe was then performed. The biopsied specimens showed vascular wall disruption and fibrinoid necrosis with perivascular inflammatory infiltrates, mainly composed of CD8-positive T cells, and PCNSV was diagnosed. He was treated with high dose corticosteroids, in combination with methotrexate (8 mg/week), which reduced the brain lesions. As brain biopsy is an essential investigation for the histological diagnosis of PCNSV; subsequent biopsies may be required when a histopathological diagnosis has not been obtained by the first biopsy, and further aggressive therapy is being considered.

View full abstract

A 60-year-old man was admitted to our hospital because of vertigo and repeated vomiting, which suddenly occurred 25 hours before admission. Neurologic examination revealed Wallenberg syndrome on the left side, and brain MRI showed acute infarcts in the left lateral medulla as well as in the left internal carotid artery (ICA) territory. MR angiography did not depict the left vertebral artery (VA) and the left ICA. Despite antithrombotic treatment, he developed bulbar palsy, and then, brain herniation due to infarct growth in the left middle cerebral artery territory. He died on day 9. Histopathlogical examination found verruca involving the mitral leaflet, which was consistent with non-bacterial thrombotic endocarditis (NBTE). Atherosclerosis was also found in the systemic arteries, and there was sclerotic stenosis with calcification at the portion of piercing dulla matter in the left VA and at the cavernous segment of the left ICA. Because the cerebral emboli in the narrowed lumen presented a histologic appearance similar to that of the verruca, the diagnosis of brain embolism due to NBTE was confirmed.

View full abstract

We here report a 39-year-old woman of short stature with sensorineural deafness, who suddenly developed status epilepticus. T₂-weighed image of brain magnetic resonance imaging (MRI) revealed a high signal lesion in the left temporal area, the distribution of which was not compatible with any particular arterial supply. Lactate and pyruvate were elevated in the serum and cerebrospinal fluid. As the mitochondrial gene analysis revealed the m.3243A>G mutation, diagnosis of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode (MELAS) was made. In the histochemical study of a biopsied muscle, the intramuscular blood vessels reacted strongly with SDH (SSV), but the SSV was negative for cytochrome c oxidase (COX), the findings characteristic of myoclonic epilepsy with ragged-red fibers (MERRF). This is the first case of MELAS in which the muscle histochemistry showed positive SSV unassociated with increased COX.

View full abstract

A 45-year-old man was admitted to our hospital because of taste disorders in March 2014. He exhibited cervical muscle weakness and left eye ptosis, which responded to Tensilon test, and was diagnosed with myasthenia gravis (MG). He developed aspiration pneumonia and myasthenic crisis, which was treated with intravenous immunoglobulin and steroid pulse therapy. All symptoms disappeared. Oral administration of prednisolone and tacrolimus was started. Chest CT revealed thymoma and extended thymectomy was performed in May 2014. In December 2014, seven months after the thymectomy, hematological examination showed pancytopenia including severe neutropenia. We diagnosed his illness as aplastic anemia (AA). Cyclosporine therapy with transfusion was administerd and led to reticulocyte count recovery. Since May 2015, hemoglobin recovery reached a blood transfusion free period. To our knowledge, this is the first case report with the patient supposed of relationship among taste disorders, AA and thymoma-associated MG.

View full abstract

A 24-year-old man was referred to our hospital emergency department due to a sudden onset of convulsions after drinking. On arrival he presented status epilepticus and was managed by artificial ventilation. He had no brainstem signs or meningeal irritation. Head MRI showed an old infarction-like lesion in the left occipital lobe, but no abnormal signals on diffusion-weighted images. The patient showed acute rhabdomyolysis (CK 18,000 IU/l) and renal failure, and hemodialysis was started. On 18 day after admission, he was transferred to our department with mild proximal limb muscle weakness and bilateral sensorineural hearing impairment. Electroencephalography demonstrated diffuse intermittent slow wave activities. We suspected a mitochondrial disease because of a significant increase in the lactate/pyruvate ratio (24.1) in the spinal fluid, and identified A3243G mutations in mitochondrial DNA (heteroplasmy 20%) in peripheral white blood cells. We diagnosed his illness as mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). This is a rare case presenting an acute onset of rhabdomyolysis following alcohol intake related to A3243G mitochondrial mutation without preceding stroke-like episodes.

View full abstract

[in Japanese]

View full abstract

[in Japanese]

View full abstract

[in Japanese]

View full abstract