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We herein report the case of a 53-year-old man with cerebellar ataxia with anti-glutamic acid decarboxylase antibody (GAD-Ab) who mimicked Miller Fisher syndrome (MFS). He developed ophthalmoplegia, diplopia, and gait ataxia for one week. The serum and cerebrospinal fluid GAD-Ab titers were greatly increased, and the GAD-Ab index suggesting intrathecal antibody synthesis was elevated, while GQ1b-Ab was negative. After steroid pulse therapy and following prednisolone, his symptoms dramatically improved over the course of 11 months with the simultaneous decline of GAD-Ab titers. This case indicates that cerebellar ataxia with GAD-Ab can present with acute neurological findings mimicking MFS, and that steroid therapy has an excellent therapeutic effect.

Objective To evaluate the factors related to the choice of a tracheostomy and invasive ventilation in amyotrophic lateral sclerosis patients and to determine survival time after a tracheostomy at a single institute in Japan between 1990 and 2010. Methods Data for survival time until death or tracheostomy were obtained from 160 patients. Fifty-two patients (33%) underwent tracheostomy/mechanical ventilation. Results Tracheostomy and invasive ventilation prolonged median survival time (74 months), as did non-invasive ventilation (48 months) when compared to a non-ventilation-supported control group (32 months; p 65 years old significantly increased after 1999 (27%) compared to earlier years (10%, p = 0.002). Cox proportional modeling confirmed an age of ≤ 65 years as advantageous for long-term survival after a tracheostomy. In univariate logistic regression analysis, factors related to the decision to perform a tracheostomy included an age of ≤ 65 years, greater use of non-invasive ventilation, the presence of a spouse, interval and speed from disease onset to diagnosis/tracheostomy and preservation of motor function. In multivariate logistic regression analysis, age, shorter duration from disease onset until tracheostomy and the presence of a spouse were independently associated with the decision to perform a tracheostomy. Kaplan–Meier plots revealed longer survival times in patients who resided at home after a tracheostomy compared to patients who stayed at a hospital (p = 0.007). Conclusions Tracheostomy and invasive ventilation are frequently used in Japan. Various factors impact patients' decisions to have these procedures. This study identified factors related to the decision-making process and post-tracheostomy survival.

Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is a rare central nervous system inflammatory disease characterized by the punctate gadolinium enhancement peppering the pons and the cerebellar peduncles as neuroimaging. We report the case of a 66-year-old woman who presented with CLIPPERS associated with swelling in the brainstem. She was hospitalized because of gait ataxia and consciousness disturbance. MRI of the brain showed FLAIR hyperintense lesions in the pons, cerebellar peduncles, cerebellum and the subcortical white matter lesion in the right occipital lobe with significant swelling in the brainstem. Diffusion-weighted MRI did not show an abnormal signal, indicating vasogenic edema. Post-contrast T1-weighted MRI showed enhanced area in the right occipital lobe and panctate gadolinium enhancement peppering brainstem. Treatment with steroids led to rapid improvement. However, she showed exacerbation of clinical and radiological findings during the tapering schedule of steroid. The biopsy from the occipital lobe revealed intense perivascular and parenchymal lymphocytic infiltrates composed of primarily T cells, B cells and macrophages. The patient was diagnosed with CLIPPERS, and treatment with increased dose of corticosteroid induced a clinical improvement. Previous reports well described a characteristic MRI finding of punctate enhancement peppering the pons. In addition, the pons and cerebellar peduncles swelling can occur in this disorder.

Hypertrophic pachymeningitis is an inflammatory disease that causes various neural symptoms, including headache and cranial neuropathy, presenting as pachymeningeal hypertrophy with contrast enhancement on imaging. The cause of this disease is classified as idiopathic, in which the underlying disease is unknown, and is associated with autoimmunity, such as antineutrophil cytoplasmic autoantibody (ANCA)-related vasculitis, IgG4-related disease and infections [1]. Here, we describe a patient with ANCArelated hypertrophic pachymeningitis that developed with visual impairment caused by optic perineuritis. Although optic perineuritis closely resembles optic neuritis, it is a different condition. Thus, it is important to ascertain the condition after hypertrophic pachymeningitis diagnosis and to provide appropriate treatment. An 87-year-old woman underwent surgery for a cataract of the left eye; however, immediately after the surgery, blurred vision occurred in the eye. Thereafter, she developed headaches and loss of vision. Visual acuity of the left eye was 0.4, and 3 days later, only light perception was possible, and she was admitted to our hospital. However, on identifying a high inflammatory response and abnormal findings through magnetic resonance imaging (MRI) of the head, she was admitted to our department. On admission, she had right visual acuity of 0.8 with left light perception, no difference in left–right pupil size, normal eye movement. She was negative for neck stiffness, and no other neurological deficit suggesting neuromyelitis optica spectrum disorders was detected. Blood tests revealed a high inflammatory response with white blood cell counts of 10,970/mm, C-reactive protein (CRP) levels of 9.25 mg/ dL, anti-nuclear antibodies 1:640, proteinase 3 (PR3)ANCA levels of 7.1 U/mL, and high myeloperoxidase (MPO)-ANCA levels of 5.1 U/mL. However, IgG4 level was normal at 108 mg/dL. Anti-aquaporin 4 antibody was negative. Examination of the cerebrospinal fluid revealed a cell count of 13/mm and protein and glucose levels of 107.3 and 54 mg/dL, respectively. PCR revealed the absence of herpes simplex virus, varicella zoster virus, and tuberculosis bacterial DNA in cerebrospinal fluid. There were no abnormalities on fundoscopy, and no papilledema was observed; however, visual field test on the Goldmann perimeter revealed central scotoma with concentric narrowing of the visual field in the left eye. MRI of the optic nerve on T2-weighted fat-suppressed imaging revealed linear high signal intensity and tram-track signs [2] that were believed to be an enlargement of the cerebrospinal fluid cavity surrounding the left and right optic nerves (Fig. 1a). The left optic nerve showed increased enhancement of the gadolinium contrast medium surrounding the optic nerve (Fig. 1b, c). These visual field test and MRI findings were believed to be signs of left optic perineuritis. Cerebral MRI revealed increased enhancement of the pachymeninx extending to the entire cerebral hemisphere with left-side predominance (Fig. 1d–f), and positive results for PR3-ANCA and MPO-ANCA on blood testing led to the consideration of ANCA-related hypertrophic pachymeningitis. Furthermore, diffusion-weighted imaging & Hideto Nakajima in1045@poh.osaka-med.ac.jp

Guillain–Barre syndrome (GBS) is an acute, post-infectious, inflammatory, autoimmune peripheral neuropathy with a highly diverse clinical course and outcome. We classified GBS on the basis of patients’ first nerve conduction and validated this system to be associated with outcome on the basis of electrophysiological characteristics during the acute phase of GBS. We retrospectively evaluated 40 GBS patients who underwent their first electrophysiological study within 14 days of onset and classified GBS into four patterns: (1) acute inflammatory demyelinating polyneuropathy (AIDP) pattern with sensory nerve conduction abnormalities (motor–sensory AIDP: MS-AIDP), (2) AIDP pattern without sensory nerve conduction abnormalities (motor AIDP: M-AIDP), (3) acute motor axonal neuropathy (AMAN) pattern, and (4) minor abnormalities pattern. We compared the clinical, electrophysiological, and laboratory findings between groups and determined subgroups associated with poor outcome. The MS-AIDP and AMAN patterns more frequently exhibited prolonged recovery compared with the M-AIDP and minor abnormalities patterns and were associated with prolonged recovery (specificity, 100 %; sensitivity, 73 %; P < 0.001). The period of inability to walk independently was significantly longer in the MS-AIDP and AMAN patterns than in the M-AIDP and minor abnormalities patterns (median 85 vs. 10 days; P < 0.001). In conclusion, our classification of GBS using a single nerve conduction study in the early phase of disease is associated with outcomes. This classification can be used to counsel individual patients and guide decision-making with respect to treatment.

Background Pulmonary thromboembolism is a common cause of death in patients with autopsy-confirmed Parkinsonism. This study investigated the incidence of leg deep vein thrombosis in Parkinson’s disease and relationships between deep vein thrombosis and clinical/laboratory findings, including postural abnormalities as assessed by photographic measurements. Methods This cross-sectional study assessed the presence of deep vein thrombosis using bilateral leg Doppler ultrasonography in 114 asymptomatic outpatients with Parkinson’s disease. Results Deep vein thrombosis was detected in 23 patients (20%) with Parkinson’s disease. Deep vein thrombosis was located in the distal portion in 18 patients and in the proximal portion in 5 patients. No significant differences in age, sex, body mass index, disease duration, Hoehn-Yahr stage, anti-Parkinson’s drugs, or daily levodopa-equivalent dose were seen between deep vein thrombosis-positive and -negative groups. Univariate analysis for developing deep vein thrombosis in patients with Parkinson’s disease identified the following markers: long-term wheelchair use, bent knee, bent spine, and D-dimer elevation. Bending angles were significantly greater in the deep vein thrombosis-positive group at the knee and spine than in the deep vein thrombosis-negative group. Half of Parkinson’s disease patients with camptocormia had deep vein thrombosis. Among diabetes mellitus cases, long-term wheelchair use, bent knee over 15°, camptocormia, D-dimer elevation, the more risk markers were associated with a higher incidence of DVT. The presence of risk markers contributed to the development of deep vein thrombosis. On multivariate logistic regression analysis, a bent knee posture was strongly associated with an increased risk of deep vein thrombosis. Conclusion Presence of leg deep vein thrombosis correlated with postural abnormalities in Parkinson’s disease. We recommend non-invasive ultrasonographic screening for leg deep vein thrombosis in these high-risk patients with Parkinson’s disease.

A 38-year-old woman with Wilson's disease developed neurological deterioration after 25 years of low-dose penicillamine administration. She showed an akinetic-rigid syndrome and cerebellar motor ataxia. Brain MRI showed increased signal intensity at the bilateral pons, midbrain, putamen, and thalamus. 123I-IMP-SPECT revealed a diffuse reduction of cerebral blood flow at the bilateral cerebral hemisphere including the basal ganglia. After the patient's regimen was changed to zinc therapy, her neurological condition gradually improved, and she showed almost complete recovery within two years. Serial MRI and SPECT studies showed a marked improvement in the lesions.