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Objective To identify mutations in vacuolar protein sorting 13A (VPS13A) for Japanese patients with suspected chorea-acanthocytosis (ChAc). Methods We performed a comprehensive mutation screen, including sequencing and copy number variation (CNV) analysis of the VPS13A gene, and chorein Western blotting of erythrocyte ghosts. As the results of the analysis, 17 patients were molecularly diagnosed with ChAc. In addition, we investigated the distribution of VPS13A gene mutations and clinical symptoms in a total of 39 molecularly diagnosed Japanese patients with ChAc, including 22 previously reported cases. Results We identified 11 novel pathogenic mutations, including 1 novel CNV. Excluding 5 patients with the unknown symptoms, 97.1% of patients displayed various neuropsychiatric symptoms or forms of cognitive dysfunction during the course of disease. The patients carrying the 2 major mutations representing over half of the mutations, exon 60–61 deletion and exon 37 c.4411C>T (R1471X), were localized in western Japan. Conclusions We identified 13 different mutations in VPS13A, including 11 novel mutations, and verified the clinical manifestations in 39 Japanese patients with ChAc.

Metaiodobenzylguanidine (MIBG) myocardial scintigraphy is widely accepted as a beneficial tool for differentiating Parkinson's disease (PD) from other Parkinson-related disorders (PRD). In Japan, dopamine transporter (DAT) imaging, which can evaluate presynaptic degeneration of dopamine neurons, has been applied in clinics since 2014. The present study investigated the utility of [(123)I]-Ioflupane single photon emission computed tomography (SPECT) combined with MIBG myocardial scintigraphy for the diagnosis of PD. We performed [(123)I]-Ioflupane SPECT and MIBG myocardial scintigraphy in 63 PD patients, 8 PRD patients and 1 essential tremor patient, and obtained the specific binding ratio (SBR [cut-off: 4.5]) and the heart-to-mediastinum ratio (H/M [cut-off: 2.2]). In 70% of the PD patients, both parameters were significantly reduced. In 22% of the PD patients, the SBR was smaller than 4.5 with normal H/M, and H/M was less than 2.2 with normal SBR in 5% of all subjects. Either the SBR or H/M was significantly reduced in 97% of the study population. The SBR showed low disease specificity to PD (11%), and the SBR and H/M negatively correlated with disease duration. These findings indicate that [(123)I]-Ioflupane SPECT combined with MIBG myocardial scintigraphy can improve the detection rate of PD. However, careful interpretation of these results is required because [(123)I]-Ioflupane SPECT poorly differentiates PD from PRD. Progression of PD may reflect the gradual reduction of isotope accumulation, hence, both [(123)I]-Ioflupane SPECT and MIBG myocardial scintigraphy should be tested repeatedly even in clinically suspected PD cases showing negative results.

A 71-year-old woman was admitted to our hospital complaining of left orbital pain, headache, diplopia and left-sided ptosis, which she had suffered for two months. On examination, the patient had loss of visual acuity, left-sided ptosis, lateral gaze disturbance, and was diagnosed as having left orbital apex syndrome. An abnormal signal to the left orbital cone was detected on MRI. Serum β-D-glucan was increased, and serum Aspergillus antigen and antibody were both positive. Although antifungal drugs (voriconazole and liposomal amphotericin B) were administered, the symptoms deteriorated. The patient then underwent optic nerve decompression surgery and was treated with intravenous methylprednisolone, which gradually improved the patient's symptoms, Aspergillus hyphae were confirmed by pathological examination. To obtain good prognosis for patients with orbital apex syndrome associated with Aspergillus infection, optic nerve decompression surgery should be considered.

Introduction: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a cerebral small-vessel disease (CSVD). Mutations in the high-temperature requirement serine peptidase A1 gene ( HTRA1 ) cause CARASIL via a decrease in protease activity of HTRA1. Although most of the heterozygotes with the HTRA1 mutation are healthy, manifesting heterozygotes have been reported. We have elucidated that the mutant HTRA1s that develops CSVD in a heterozygote state have a distinct molecular mechanism, resulting in the dominant negative effect. These individuals showed mild phenocopy of CARASIL. However, it is not clear whether brain MRI findings in manifesting heterozygotes are different from those of CARASIL. In this study, we aimed to clarify the characteristic brain MRI features in manifesting heterozygotes by comparing them to those in CARASIL. Methods: We have evaluated 19 MRIs in eight manifesting heterozygotes and 21 MRIs in seven CARASIL patients and scored the MRIs by using a semi-quantitative scale for CARASIL, which scored white matter lesions (WMLs) (signal score) and atrophy (atrophy score) (Nozaki et al. Neurology 2015). Statistical analysis was conducted using software R 3.2.2. We obtained written informed consent from all individuals. Results: Signal score in manifesting heterozygotes was significantly lower than that in CARASIL (Mean ± SD; 14.6 ± 1.9 vs. 23.1 ± 5.0, p < 0.0001), however, there was no difference in atrophy score between the two groups (Mean ± SD; 5.5 ± 2.2 vs. 7.5 ± 5.5, p = 0.20). Atrophy score showed positive correlation with the disease duration in both groups (r 2 = 0.48, p = 0.0014 vs r 2 = 0.41, p = 0.0041), however signal score showed no correlation with the disease duration. Conclusion: WMLs is milder in manifesting heterozygote as compared with CARASIL. In contrast, the brain atrophy is not influenced by the HTRA1 mutation status but positively correlated with the disease duration. The rate of carriers for pathogenic HTRA1 mutations are higher than expected. These characteristic findings of brain MRIs might be useful to pick up the candidate for the genetic screening for HTRA1 .

In the present paper the static lubrication characteristics of a slider flying over a running boundary wall with arbitrary local temperature distributions are analyzed using the thermomolecular gas-film lubrication (t-MGL) equation. We obtain two approximate solutions: (a) a linearized solution when the temperature deviation is small ( $$ \tau_{W} \ll 1 $$ ? W ? 1 ) and arbitrarily distributed, and (b) a solution for the case with a very large bearing number $$ (\varLambda \to \infty ) $$ ( ? ? ? ) . We herein numerically calculate the static lubrication characteristics and verify the validities of these two approximate solutions. Moreover, we calculate the characteristics for various temperature distributions produced by laser heating.

ObjectiveTo identify mutations in vacuolar protein sorting 13A (VPS13A) for Japanese patients with suspected chorea-acanthocytosis (ChAc).MethodsWe performed a comprehensive mutation screen, including sequencing and copy number variation (CNV) analysis of the VPS13A gene, and chorein Western blotting of erythrocyte ghosts. As the results of the analysis, 17 patients were molecularly diagnosed with ChAc. In addition, we investigated the distribution of VPS13A gene mutations and clinical symptoms in a total of 39 molecularly diagnosed Japanese patients with ChAc, including 22 previously reported cases.ResultsWe identified 11 novel pathogenic mutations, including 1 novel CNV. Excluding 5 patients with the unknown symptoms, 97.1% of patients displayed various neuropsychiatric symptoms or forms of cognitive dysfunction during the course of disease. The patients carrying the 2 major mutations representing over half of the mutations, exon 60–61 deletion and exon 37 c.4411C>T (R1471X), were localized in western Japan.ConclusionsWe identified 13 different mutations in VPS13A, including 11 novel mutations, and verified the clinical manifestations in 39 Japanese patients with ChAc.

Metaiodobenzylguanidine (MIBG) myocardial scintigraphy is widely accepted as a beneficial tool for differentiating Parkinson's disease (PD) from other Parkinson-related disorders (PRD). In Japan, dopamine transporter (DAT) imaging, which can evaluate presynaptic degeneration of dopamine neurons, has been applied in clinics since 2014. The present study investigated the utility of [(123)I]-Ioflupane single photon emission computed tomography (SPECT) combined with MIBG myocardial scintigraphy for the diagnosis of PD. We performed [(123)I]-Ioflupane SPECT and MIBG myocardial scintigraphy in 63 PD patients, 8 PRD patients and 1 essential tremor patient, and obtained the specific binding ratio (SBR [cut-off: 4.5]) and the heart-to-mediastinum ratio (H/M [cut-off: 2.2]). In 70% of the PD patients, both parameters were significantly reduced. In 22% of the PD patients, the SBR was smaller than 4.5 with normal H/M, and H/M was less than 2.2 with normal SBR in 5% of all subjects. Either the SBR or H/M was significantly reduced in 97% of the study population. The SBR showed low disease specificity to PD (11%), and the SBR and H/M negatively correlated with disease duration. These findings indicate that [(123)I]-Ioflupane SPECT combined with MIBG myocardial scintigraphy can improve the detection rate of PD. However, careful interpretation of these results is required because [(123)I]-Ioflupane SPECT poorly differentiates PD from PRD. Progression of PD may reflect the gradual reduction of isotope accumulation, hence, both [(123)I]-Ioflupane SPECT and MIBG myocardial scintigraphy should be tested repeatedly even in clinically suspected PD cases showing negative results.

We report a 56-year-old man who suffered from acute unilateral visual loss that was revealed by magnetic resonance imaging (MRI) to be optic perineuritis with subtle involvement of perineural fat. Visual evoked potentials (VEPs) were flattened in the left eye, but normal in the right eye. Following diagnosis of optic perineuritis, intravenous methylprednisolone was administered for 3 days. Two weeks later, visual acuity in the left eye was improved, and abnormal MRI images were completely resolved together with normalisation of VEPs. We conclude that VEPs may be helpful in confirming this type of disease restricted to the optic nerve sheath with subtle perineural involvement.

We intensively examined the spinal cord of an autosomal recessive juvenile parkinsonism (ARJP) female patient with a homozygous exon 3 deletion in the parkin gene, anticipating a possible involvement of anterior horn neurons. Although the clinical features of the patient were consistent with parkinsonism as a result of parkin mutation, her tendon reflex was abolished in the lower limbs. This feature was in contrast with hyperreflexia, usually found in previous reports of ARJP. Histologically, on the level of the cervical, thoracic, and sacral spinal cord, anterior horn neurons were well preserved and normal. However, the lumbar spinal cord exhibited many swellings of proximal axons (spheroids) and degenerative changes in the somata of the large anterior horn neurons such as central chromatolysis, cystatin C-negative small eosinophilic inclusions, and eosinophilic Lewy body-like inclusions. Ultrastructurally, accumulations of neurofilaments and abnormal structures, such as inclusion bodies similar to skein-like inclusions and disorganized rough endoplasmic reticulum, were observed in the somata and neuronal processes. Lewy body-like inclusions in this study were positively immunostained for both alpha-synuclein and ubiquitin that closely resemble Lewy bodies, but are different from Lewy body-like inclusions negatively immunostained for alpha-synuclein in amyotrophic lateral sclerosis. These findings suggest that eosinophilic inclusions that closely resemble Lewy bodies may be formed in the spinal motor neurons of ARJP patients with parkin mutations and the motor neurons of these patients may be vulnerable to neurodegeneration.

Long wave theory was employed to examine the deformations of ultra-thin but continuum liquid films produced by applied pressures and shearing stresses. Long wave theory is based on the time-evolution equation for the shape and deformation of thin liquid films and includes surface tension and surface forces such as van der Waals forces. As the deformations caused by gas pressures are usually very small, the linearized long wave equation, which is applicable to infinitesimal deformations, was derived and employed to predict the steady-state liquid surface deformations of a non-polar lubricant produced by concentrated or distributed gas pressures. It was found that the results obtained using the linearized equation agree well with those obtained using the nonlinear long wave equation.

To examine molecular gas film lubrication (MGL) characteristics for spacings of several nanometers, the free molecular MGL equation, which assumes that the flow in the lubrication region is the free molecular flow and involves the Poiseuille flow rate and the shear stress coefficient for the free molecular flow region with surface accommodation coefficients as parameters, is established. The usefulness of the free molecular MGL equation for the spacings of less than several nanometers is shown by comparing with the numerically calculated characteristics of flying head sliders using the conventional expression of the MGL equation with accommodation coefficients of running disk and slider, α0 and α1, as parameters. The static pressure generation is found to depend only on the accommodation coefficient of the running disk in the free molecular region.

The cubic interpolated propagation (CIP) method, which is an effective numerical scheme for differential equations that include advection and nonadvection terms, is employed for the dynamic analyses of ultra thin gas film lubrication using the molecular gas-film lubrication equation. First, pressure generation caused by the running wavy disk under the fixed slider was analyzed by the CIP method and is found to agree well with the analytical solution for the running wavy disk with a small amplitude. 2-DOF slider dynamics with the spacing of several tens of nanometers caused by a running disk with projections were investigated by the CIP method and the linearized solutions, which show that both results agree well with each other and the CIP method is promising scheme for slider dynamics even in the near-contact region.

This paper proposes and analyzes a novel laser-assisted micro levitation mechanism utilizing thermal creep flow which occurs only in regions where the spacing is small and temperature gradients exist along the boundary walls. The basic configuration of the mechanism is similar to the laser-assisted magneto-optical recording or near field recording system. A circular plate with a radius of 1 mm, whose temperature linearly decreases with increasing radius and whose temperature ratio T/sub W center//T/sub 0/ is 1.2, has a load-carrying capacity of about 3 mN when the spacing between the floating and fixed plates is 0.1 /spl mu/m.

It is known that patients with convulsion often present hyperammonemia. The elevation of ammonia levels in convulsion is considered to occur along with extensive muscle contractions, but the details remain unclear. In emergency pathologies, such as cardiopulmonary arrest or hemorrhagic shock without muscle contraction, red blood cells are known to produce ammonia through acidosis, leading to hyperammonemia. A similar effect would be considered to be involved in idiopathic epileptic seizure patients as well.We retrospectively analyzed the cases of epileptic seizure that were transported to the emergency medical care center of Ohta Nishinouchi Hospital and diagnosed by neurologist as idiopathic epileptic seizure or epilepsy due to cerebrovascular disorder. Forty-four patients were idiopathic epilepsy, and 8 had epilepsy due to cerebrovascular disorder. Those with hepatic encephalopathy, metabolic disorder, alcohol consumption, tumor, and patients taking oral valproic acid were excluded.High ammonia levels (35 μmol/L) were observed in 22 cases. Maximum ammonia level was 506 μmol/L. Significant differences were observed in the pH (r = 0.838, P.0001) and base excess (BE) (r = 0.863, P.0001), the values suggesting a strong negative correlation between the ammonia level and pH/BE.Idiopathic epileptic seizures can present with prominent hyperammonemia with acidosis. Because high ammonia level in epileptic seizure was strongly correlated with pH and BE, we speculate that hyperammonemia is not only because of extensive muscle contractions but is also related to ammonia production in the red blood cells through acidosis like other emergency conditions.

在宅ターミナルケアは家族の負担はあるものの患者にとっては贅沢な医療である.現在の日本で在宅医療を行うには,まだまだ多くの問題がある.しかしながら,患者,家族がそれを望む以上,医療者も行政もそれに応えるシステムをつくる時期にきていることも事実である.在宅ターミナルケアでは患者のみならず家族の身体的・精神的ケア,インフォームドコンセント,また臨死期の対応など多くの課題を抱えている.本稿ではそれらについて考察した.

道順障害を呈した皮質下出血の2例 (症例1;67歳, 男性, 右利き, 症例2;60歳, 男性, 右利き) を報告した.2例とも自宅, 自宅周辺の建物など (地理的目印) の同定は可能だが, 自宅の見取り図や自宅周辺の描写は不可能であった.当初軽度の構成障害を認めたが, 相貌失認, 左半側空間失認などの他の失認は認めなかった.道順障害は症例1では発症3カ月目, 症例2では発症1カ月目に消失した.症例1では右後頭頭頂領域と脳梁膨大後域, 症例2では右側頭葉後部に皮質下出血を認めた.道順障害の責任病巣として右脳梁膨大後域から頭頂葉内側部が重視されており, 症例1では典型的であった.症例2では非典型的であり, その症状や経過より血腫の2次的影響による可能性を考えた.地理的障害において地理的目印の認知または記憶の障害 (街並失認) と地理的目印の空間的位置関係の認知または記憶の障害 (道順障害) を区別して検討する必要があると考えられる.

症例は70歳,女性. 20歳頃より両手指の姿勢時振戦を認め,悪化傾向なく経過していた. 65歳より近医でパーキンソン病としてL-DOPAを投与されていたが,振戦以外の症状は認められず, 1999年にL-DOPA中止後も症状の増悪は認められなかったため,本態性振戦と診断された. 2000年2月よりファモチジンの内服を開始したところ, 3月頃よりパーキンソン症状が出現した.ファモチジンが薬剤性パーキンソニズムの原因になり得るかどうか,今後の臨床的観察が必要と考え,症例を報告した.

Keywords: ampicillin; cerebral vasculitis; Listeria monocytogenes ; magnetic resonance imaging; meningoencephalitis

We have investigated ultrastructurally swellings of the proximal axons directly connected with the somata of anterior horn cells in a patient with motor neuron disease. In the distal portion of the initial segment, the swellings consisted predominantly of increased amounts of neurofilaments running nearly parallel to the longitudinal axis together with other cytoplasmic organelles. In the first internode of the myelinated axon, as the swellings became larger, the neurofilaments lost their parallel orientation and became intermingled. Most of the cell bodies connected with the swellings and their dendrites showed no particular changes. The abnormal neurofilamentous accumulations in the proximal axons suggest abnormal axonal transport, which may be pathogenetically associated with motor neuron disease.

We report a case of Isaacs' syndrome associated with Hashimoto disease. A 26-year-old woman, who had a past history of Hashimoto disease, complained of involuntary movements and muscle cramp in lower extremities. On examination, myokymia was seen in lower extremities. Myokymia was observed even during sleep, and worsened by exercise or bathing. The antibody against voltage-gated potassium channel (VGKC) was positive. Myokymic discharges were recorded with needle EMG in lower extremities. The patient was diagnosed as having Isaacs' syndrome. Isaacs' syndrome tends to be associated with some other autoimmune diseases. We discussed the correlation between Isaacs' syndrome and autoimmune disease. About 23% of Isaacs' syndrome cases are associated with some other autoimmune diseases and myasthenia gravis was most common. This is the first case report of Isaacs' syndrome associated with Hashimoto disease in Japan.

Background Although a number of studies reported different interictal findings between migraine with aura (MA) and migraine without aura (MO), the pathophysiology of the visual aura in migraine remains unclear. Objective To investigate the visual processing in patients who experience MA between attacks using steady-state visual evoked potentials (SSVEPs). Methods SSVEPs to high (98%) and low (29%) contrast black and white checkerboard gratings with two spatial frequencies (0.5 and 2.0 cpd) at 5 and 10 Hz (10 and 20 reversal/s) were recorded binocularly from 10 patients with MA, 10 patients with MO between attacks and 20 healthy controls (HC). The SSVEPs were Fourier analyzed to obtain the amplitude and phase of the second (2F) and fourth (4F) harmonic response. Results In the amplitude of 2F, at 0.5 cpd, there was significant increased amplitude in both MA and MO in comparison to HC at 5 Hz in high and low contrast. However, no significant differences were detected at 2.0 cpd in both 5 and 10 Hz in high and low contrast. In the amplitude of 4F, at 2.0 cpd, there was significant increased amplitude in MA in comparison to MO and HC at 10 Hz in high contrast. However, there were no significant differences at 0.5 cpd at both 5 and 10 Hz in high and low contrast. There were no significant phase differences between MA, MO, and HC. Conclusion The high amplitude of the SSVEPs suggests that interictally migraine patients have abnormal excitability in the primary visual cortex, and this change in excitability may exist, at least partially, in the visual association cortex in MA.

To examine deformations of ultra-thin but continuum liquid film, the long wave theory was employed. The long wave theory uses the time-evolution equation for the shape and deformation of the thin liquid film and includes the surface tensions and surface forces such as the van der Waals (vdW) force. By numerically solving the time-dependent long wave equation, deformations of the ultra-thin lubricant film considering the vdW pressure with initial/boundary configurations of the liquid surfaces were obtained.Copyright © 2007 by ASME

Background.—Clinical and neurophysiological manifestations of information processing associated with central sensitization are little known. Allodynic migraine (AM) can be caused by the sensitization of trigeminal neuron, but no study has reported on AM between attacks using blink reflex (BR) and pattern-reversal visual evoked potentials (PVEPs). Objective.—We explored the characteristics of AM between attacks associated with central sensitization using BR and PVEP. Methods.—We recruited 13 patients with interictal AM and 15 patients with nonallodynic migraine (NA), and 30 healthy subjects (HS). BRs were obtained using paired pulses delivered at the interstimulus interval (ISI) of 150, 300, and 500 ms. The ratio of the area in the R2 of the second to R2 of the first shock was measured for each ISI. PVEP were recorded with 2 spatial frequencies (0.5 and 4.0 cpd) and 2 low and high contrasts (29% and 98%, respectively). Amplitudes of P100 were measured. Results.—For BR, there were no significant differences in the ratio of the area of the R2 between the sides of stimulation, and the sides of headache. AM patients had less suppression of the R2 at the ISI of 150 and 300 ms when compared with the NA patients and HS. For PVEP, at 0.5, there were significant differences of amplitude between AM patients and HS, and between NA patients and HS in low and high contrast. At 4.0 cpd, there were significant differences of amplitude between AM patients and HS in low contrast, and between AM patients and HS, and NA patients and HS in high contrast. In AM patients, there was a significant difference of amplitude ratio between 0.5 and 4.0 cpd. Conclusions.—Our BR and PVEP study showed that migraine patients exhibiting allodynia may show central sensitization of brainstem trigeminal neuron and have contrast modulating dysfunction during the cortical visual processing of striate and extrastriate on visual cortex in-between attacks.

The Headache Classification Subcommittee of the International Headache Society classifies headaches related to eyes as "Headache attributed to disorder of eyes" in the International Classification of Headache Disorders; 2nd Edition(ICHD-II). It consists of "Headache attributed to acute glaucoma", "Headache attributed to refractive errors", "Headache attributed to heterophoria or heterotropia(latent or manifest squint)", "Headache attributed to ocular inflammatory disorder". But other causes of headache related to eyes exist. For example, dry eye causes the headache. This article mentions to "Headache attributed to disorder of eyes" in ICHD-II, and additionally, describes other causes of headache associated with disease of eye.

To examine behaviors of ultra-thin but continuum liquid film, the long wave theory was employed, which is the time-evolution equation for the shape of the thin liquid film and includes the surface tension and surface forces at boundaries such as the van der Waals force. Stability/ instability of the liquid surface can be analyzed as growth and decay problem of infinitesimal deformations of the liquid surface. The van der Waals force from neighboring slider may cause instabilities of the liquid surface, whereas the van der Waals force from the disk and the surface tension of the gas-liquid interface stabilize the disturbances.

Objective: To report an autopsy case of an autosomal recessive juvenile parkinsonism patient with a homozygous exon 3 deletion in the parkin gene and α-synuclein-positive inclusions. Methods: The representative areas of the brain were embedded in paraffin, stained with hematoxylin-eosin, Kluver-Barrera, and Gallyas-Braak stainings. Immunohistochemically, some of the specimens were used for immunostaining with the antibodies to α-synuclein, ubiquitin, and phosphorylated tau (AT8). Immunoreaction was visualized by the streptavidin-biotin-peroxidase complex method. Results: Histologically, the lesions of the brain were limited to the dopaminergic neuron system such as the substantia nigra (SN) and locus ceruleus. Melanin-containing neurons in the pars compacta of the SN were moderately to severely depleted, accompanied by gliosis. In the locus ceruleus, neurons were mildly decreased and extraneuronal melanin pigments were seen. Lewy bodies were not observed in the neuropils of the pars compacta of the SN or locus ceruleus. However, basophilic inclusion bodies were only occasionally observed in the neuropils of the pedunculopontine nucleus in the mesencephalic reticular formation. Immunohistochemistry with antibodies to α-synuclein and ubiquitin showed α-synuclein- and ubiquitin-positive inclusions in the neuropils of the pedunculopontine nucleus, which had a doughnut or round shape. Conclusions: A variety of parkin gene abnormalities may produce pathologic differences in the degree and distribution of neuronal degeneration, including the absence or presence of Lewy bodies. A relationship between parkin -induced parkinsonism and idiopathic Parkinson disease (PD) may exist.

Patients in the Department of Neurology undergoing treatment for disorders such as cerebrovascular disease, dementia, metabolic disease, neuromuscular disease and intractable disease, are included as subjects requiring terminal care. Intractable diseases ware defined by the Ministry of Health and Welfare (Ministry of Health, Welfare and Labor) in 1972 as being of unknown etiology, untreatable, chronically progressive and sometimes worsened by the care provided when nursing these patients. Intractable diseases in the Department of Neurology rank with those seen in other departments. Amyotrophic lateral sclerosis is the most difficult to treat due to the lack of effective drugs. On the other hand, Parkinson disease is the most treatable among intractable diseases in the Department of Neurology with the appearance of several new effective drugs. TRH (thyrotropin releasing hormone) is effective for ataxic gait in some patients with spinocerebellar degeneration. In the terminal care of intractable diseases in the Department of Neurology, common problems such as disturbances of swallowing, respiration and speaking develop in almost all patients and measures must be taken to treat these disturbances. Artificial respiration must be considered for respiratory distress. Artificial feeding by intubation must be considered for swallowing disturbance. All kinds of communication aids must be considered for speaking difficulties. The medical and nursing care team needs to manage these problems with consideration of the quality of life of the patients and their families as well as the complication of the diseases.

We immunohistochemically and ultrastructurally studied basophilic inclusions (BI) in a patient with adult-onset sporadic motor neuron disease (MND). BI were frequently observed not only in degenerated anterior horn cells, such as central chromatolytic neurons, but also in normal-appearing large anterior horn neurons. They had various shapes, round, elliptical or irregular, and occasionally they had distinct basophilic rims. They also varied in size. There were no halos around them nor core in their centers. Immunohistochemically, some BI were immunostained for ubiquitin or SOD1, but BI were not immunoreactive with anti-phosphorylated neurofilament (SMI 31), phosphorylated tau, cystatin C or Golgi (MG-160) antibodies. Ubiquitin-positive skein-like inclusions (SI) were occasionally observed in the somata of anterior horn neurons. Ultrastructurally, BI consisted of filamentous structures associated with granules, which were attached to thick filaments. The thick filaments were straight without constriction or side arms and their diameter was twice that of the neurofilaments. BI occasionally contained tubular structures among the granule-associated filaments. The granulo-filamentous profiles varied from being compactly arranged to being more loosely packed. The structure of BI resembles that of the Lewy body-like hyaline inclusions (LBHI) observed in sporadic MND patients. Bundles of filaments resembling SI, which were composed of compactly packed filaments without fine granules running parallel to the longitudinal axis, were frequently observed inside or at the periphery of BI, and occasionally clustered in the perikarya. Each filament measured approximately 15-25 nm in diameter, and a bundle of these grouped filaments was sometimes surrounded by a unit membrane. We also occasionally observed in-between structures of BI and bundles of filaments resembling SI. These findings suggest a certain relationship between BI, SI and LBHI in the pathomechanism of BI development. Further studies are needed to elucidate whether sporadic adult-onset MND characterized by BI forms a different subtype of MND.

偽痛風は高齢者に多発し, その発作は外傷, 手術, ストレスなどで誘発されることは知られている.ところが, 脳卒中発作で偽痛風の発作が高率に誘発されることや, この発作がしばしば発熱を伴うことは意外に知られていない.したがって, 脳卒中で偽痛風発作が誘発されても, 意識障害で関節痛などの愁訴が明瞭でない時は, 発熱のみに目を奪われて診断が遅れることがある.私達もかかる症例を経験し, 脳卒中急性期に原因不明の発熱をみたときは是非, 本症を念頭におくべきと考え報告した.

This report presents a familial amyotrophic lateral sclerosis (FALS) patient with widespread vacuoles and hyaline inclusions strongly immunostained with the anti-superoxide dismutase (SOD1) antibody. The overall pathologic similarity between our non-SOD1-linked FALS patient and transgenic mice expressing a mutated human SOD1 gene suggests that common pathogenetic mechanisms other than an SOD1 mutation exist in the development of these disease.