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We report a long-lived patient with Lafora disease (LD). A 34-year-old woman experienced onset of seizures at the age of 11 years. She was bedridden in her early twenties due to frequent generalized tonic-clonic seizures, myoclonus, and progressive mental deterioration. Her seizures occurred all the time despite administration of multiple anticonvulsants at high doses. At the age of 31, she started perampanel, which resulted in reduction of anticonvulsants after her visible myoclonus and convulsions disappeared. Brain magnetic resonance imaging showed marked cerebral and cerebellar atrophy, and single-photon emission computed tomography using N-isopropyl-p-[123I] iodoamphetamine (IMP-SPECT) revealed significant hypoperfusion of the frontal lobe and cerebellum. We identified a W219R homozygous mutation in exon 1 of the NHLRC1 gene. Because perampanel may not only control seizures but also prevent mental deterioration in LD, we propose that perampanel should be administered from the early stage of LD.

In anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis, progressive cerebellar atrophy potentially leads to severe sequelae. We encountered a patient with anti-NMDAR antibody encephalitis who showed a decrease of blood flow in the cerebellum. A 15-year-old girl presented with consciousness disturbance. Influenza encephalopathy was suspected, and she was treated with glucocorticoid pulse therapy, high-dose intravenous immunoglobulins, and plasma exchange sequentially. She subsequently underwent left oophorectomy due to the presence of anti-NMDAR antibodies and a left ovarian teratoma. In spite of the surgery, her neuropsychiatric symptoms persisted, and she recovered slowly after the introduction of oral methotrexate (MTX). Sequential cerebral blood flow monitoring with single-photon emission computed tomography showed marked cerebellar hypoperfusion. Although mild impairments including working memory and verbal fluency persisted, she eventually returned to high school 3 years after onset. Profound cerebellar hypoperfusion including lobules VI and VII may be the reason for her working memory impairment and speaking problems. Oral MTX may be a promising alternative treatment for some refractory cases of anti-NMDAR encephalitis.

Epileptic seizures are common in the elderly Down syndrome population. We encountered a patient with Down syndrome in whom karyotyping showed the rare isodicentric chromosome 21 and who suffered from myoclonic seizures. A 52-year-old woman with Down syndrome experienced sudden onset of drowsiness and frequent myoclonic jerks in the upper body. Video-EEG recordings demonstrated generalized polyspike-wave discharges consistent with myoclonic jerks, which were exacerbated by photo-stimulation. Her myoclonus completely resolved with perampanel administration. Perampanel was effective for myoclonic seizures in our patient. We suggest that perampanel is an option as first-line therapy for epilepsy and myoclonus in elderly Down syndrome patients.

A 65‐year‐old woman with mutation of the ABCD1 gene for adrenoleukodystrophy (ALD) was admitted to our hospital with a urinary tract infection. Abdominal computed tomography showed dilation of the urinary tract. Although she had noticed pollakisuria since her forties, she had not been followed up by any medical institutions until we diagnosed her as a female carrier with ALD. ALD is an X‐linked pattern of inheritance that typically affects males, but many female carriers actually present slowly progressive myelopathy and neuropathy. Therefore, it is important to identify female carriers with ALD and treat them at the earliest stage possible., Many female adrenoleukodystrophy carriers manifest signs and symptoms of myelopathy and polyneuropathy. Therefore, it is important to identify female carriers with ALD and treat them at the earliest stage possible.

To clarify the current status of genetic counseling and health monitoring for symptomatic and asymptomatic female carriers of dystrophinopathy (Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD)), we sent out questionnaires to 104 member institutions of The Japan's National Liaison Council for Clinical Sections of Medical Genetics, and responses were received from 51 institutions. Between April 2013 and March 2014, 57 carriers at 21 institutions received genetic counseling, and 37 carriers at 15 institutions underwent genetic screening for DMD/BMD mutations. At the 23 institutions that gave genetic counseling, 20 (87%) informed carriers of possible health problems, 14 (61%) informed carriers of cardiomyopathy and heart failure, and 14 (61%) advised carriers about regular medical checkups. Evidence based on accurate and up-to-date epidemiological studies of female carriers is needed and should be widely shared with the families, medical providers, and society.

Many claim that they do not have enough neurologists in Japan, but supply and demand of neurologists remains to be analyzed. To investigate the recruitment for the Japanese Society of Neurology (JSN), the subcommittee of JSN for education performed a questionnaire-based survey in 80 medical universities and 271 board-certified education facilities throughout Japan. The response rate to the questionnaire was 77.5% in medical universities and 42.4% in education facilities. It was shown that each department of neurology in university recruits average 2.2 doctors, while they supposed that more than 4 doctors to be recruited every year. The questionnaire survey included what measures JSN should take in order to promote recruitment for JSN.

Objective This study attempted to clarify the current status of female dystrophinopathy carriers, including the numbers of patients, the status of genetic screening, the status of counseling, physicians' understanding, and barriers to registration. Methods We sent out questionnaires to 402 physicians registered in the Remudy dystrophinopathy registry. The total number of responses received was 130 (response rate: 32%). Result In total, 1,212 cases of Duchenne muscular dystrophy, 365 cases of Becker muscular dystrophy, and 132 cases of female dystrophinopathy with a confirmed genetic mutation were encountered, and genetic testing was performed in the mother in 137, 23, and 12 cases, respectively. With respect to the risk of the onset of health problems, 25% of physicians always explained, 29% usually explained, 29% sometimes explained, and 13% never explained the risk to the mothers and female siblings of dystrophinopathy patients. The most common reason for not explaining the risk was a lack of knowledge/information. Thirty-five percent were familiar with the guidelines for testing the heart function of carriers. Conclusion Fewer mothers of dystrophinopathy patients have undergone genetic testing in Japan than in other countries. A significant portion of doctors did not explain the risks of health problems due to a lack of knowledge. We hope this survey will lead to an increased discussion of female dystrophinopathy patients.

To understand the status of postgraduate education in neurology in Japan, the Committee for the Education of Undergraduate Students and Junior Residents within the Japanese Society of Neurology investigated the four-year trend at 80 medical schools from 2009 to 2012. The mean number of new students to each postgraduate school increased from 1.24 to 1.67 during these four years. After training clinical neurology, more than half of the neurological residents entered the postgraduate schools. Students in the postgraduate schools seemed to be researching major neurological diseases using various methods at each neurology laboratory. However, some problems were suggested. First, the mean number of newcomers to the neurology departments of the universities decreased gradually from 2.29/year to 1.96/year. Second, many of the postgraduate students were working in patient services at university hospitals or as part-time workers at other hospitals, and may not have sufficient time for their research projects. Third, many of the postgraduate students were carrying out research at each affiliated department of neurology, and may not have the opportunity to work in laboratories specializing in basic science. Finally, there may not be sufficient opportunities for further research at other laboratories in Japan or overseas after they finished their work at postgraduate school.

Lymphoma causes various neurological manifestations that might affect any part of the nervous system and occur at any stage of the disease. The peripheral nervous system is one of the major constituents of the neurological involvement of lymphoma. In this study we characterized the clinical, electrophysiological and histopathological features of 32 patients with neuropathy associated with non-Hodgkin’s lymphoma that were unrelated to complications resulting from treatment for lymphoma. Nine patients had pathologically-proven neurolymphomatosis with direct invasion of lymphoma cells into the peripheral nervous system. These patients showed lymphomatous cell invasion that was more prominent in the proximal portions of the nerve trunk and that induced demyelination without macrophage invasion and subsequent axonal degeneration in the portion distal from the demyelination site. Six other patients were also considered to have neurolymphomatosis because these patients showed positive signals along the peripheral nerve on fluorodeoxyglucose positron emission tomography imaging. Spontaneous pain can significantly disrupt daily activities, as frequently reported in patients diagnosed with neurolymphomatosis. In contrast, five patients were considered to have paraneoplastic neuropathy because primary peripheral nerve lesions were observed without the invasion of lymphomatous cells, with three patients showing features compatible with chronic inflammatory demyelinating polyneuropathy, one patient showing sensory ganglionopathy, and one patient showing vasculitic neuropathy. Of the other 12 patients, 10 presented with multiple mononeuropathies. These patients showed clinical and electrophysiological features similar to those of neurolymphomatosis rather than paraneoplastic neuropathy. Electrophysiological findings suggestive of demyelination were frequently observed, even in patients with neurolymphomatosis. Eleven of the 32 patients, including five patients with neurolymphomatosis, fulfilled the European Federation of Neurological Societies/Peripheral Nerve Society electrodiagnostic criteria of definite chronic inflammatory demyelinating polyneuropathy. Some of these patients, even those with neurolymphomatosis, responded initially to immunomodulatory treatments, including the administration of intravenous immunoglobulin and steroids. Patients with lymphoma exhibit various neuropathic patterns, but neurolymphomatosis is the major cause of neuropathy. Misdiagnoses of neurolymphomatosis as chronic inflammatory demyelinating polyneuropathy are frequent due to a presence of a demyelinating pattern and the initial response to immunomodulatory treatments. The possibility of the concomitance of lymphoma should be considered in various types of neuropathy, even if the diagnostic criteria of chronic inflammatory demyelinating polyneuropathy are met, particularly in patients complaining of pain. * Abbreviations : CIDP : chronic inflammatory demyelinating polyneuropathy EFNS/PNS : European Federation of Neurological Societies/Peripheral Nerve Society FDG : fluorodeoxyglucose IVIg : intravenous immunoglobulin

A 67-year-old man with a portal-systemic shunt confirmed by three-dimensional computed tomography (3D-CT) was successfully treated by percutaneous vascular embolization. The patient had aggravated loss of memory, disorientation, and hyperammonemia. A gastrorenal shunt 16 mm in diameter was found by 3D-CT reconstructed by helical computed tomography (CT). Embolization was performed only in the shunt percutaneously through the inferior vena cava. One year after the embolization, no recurrence of portal-systemic encephalopathy and no portal hypertension have appeared, and the clinical course has been good.

We genetically screened patients with ataxia with ocular motor apraxia type 1 (AOA1)/early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH), with a Japanese variant form of Friedreich’s ataxia. Three patients were found to have a homozygous insertion mutation of the aprataxin gene (689insT). An elder sister of a patient in this series died of cerebral hemorrhage at the age of 45, and underwent autopsy. In her cerebellar cortex, the mean density of Purkinje cells in the flocculus had predominantly decreased to 6.7% of normal controls, whereas the Purkinje cells in the other areas of the cerebellar hemisphere had decreased to 78.2%. This suggests that the cerebellar flocculus is the primary affected lesion in AOA1/EAOH, which should be associated with ocular motor apraxia.

A 77-year-old Japanese man with a 14-year history of human T-cell lymphotropic virus type I-associated myelopathy developed pancytopenia, proteinuria, renal dysfunction, and hypocomplementemia. Antinuclear antibody and anti-double-stranded DNA antibody test results were positive, and circulating immune complexes were detected. A renal biopsy showed diffuse and global mesangiocapillary proliferation with extensive subendothelial deposits. Immunofluorescence microscopy showed strong granular staining for immunoglobulins and complements in the mesangium and along capillary walls. Electron microscopy showed numerous mesangial and subendothelial electron-dense deposits. From these findings, systemic lupus erythematosus and diffuse global lupus nephritis were diagnosed. This is a rare case of a patient developing lupus nephritis during the long-term course of human T-cell lymphotropic virus type I-associated myelopathy.

2004年9月から11月にかけて日本海側北部を中心に, 原因不明の急性脳炎 (脳症) が多発した. 多くの患者は末期腎障害があり, スギヒラタケを摂取していたという共通事項があった. 秋田県では23例の届け出があった. 23例中16例は慢性透析患者であり, 血液透析患者であることとスギヒラタケ摂取が共通事項であることを私たちは報告してきた. 本研究は透析患者における急性脳症発症の危険因子を明らかにするため, 急性脳症発症例と非発症例の臨床背景やスギヒラタケ摂取の有無を比較検討した. 16名の急性脳症患者と秋田県内在住1,674名の脳症非発症透析患者について透析施設に質問用紙を郵送した. 16名の脳症患者と1,236名 (非脳症例中の73.8%) の非発症透析患者, 計1,252名から回答を得た. 16名の急性脳症例のうち, スギヒラタケ摂取が明らかであったのは14名, 不明は2名であった, 1,252名の透析患者中573名 (45.8%) がスギヒラタケを摂取し, 573名中14例 (2.4%) が急性脳症となった. 急性脳症16例のうち6例 (37.5%) が死亡した. 明らかにスギヒラタケを摂取していない患者で, 急性脳症を発症した例はなかった. 急性脳症発症例と非発症例を比較すると, 年齢, 性, 透析期間, 透析法に差はなかった. 単変量解析では, 糖尿病 (p=0.040, オッズ比3.10) とスギヒラタケ摂取者 (p=0.010, オッズ比8.63) の頻度が急性脳症発症例に多かった. 本研究結果からスギヒラタケ摂取は急性脳症発症の重要な危険因子であることが示唆された. スギヒラタケが含有していると考えられる原因物質解明のため, さらなる検討が必要である.

We report a paraneoplastic neuropathy with severe motor involvement following sensory-ataxic disturbance. Anti-disialosyl immunoglobulin M (IgM) antibody was detected in the course of malignant lymphoma of diffuse large B-cell type, which usually spares the motor system. Onset was subacute, with relapsing and remitting sensory ataxia, muscle weakness, bulbar palsy, respiratory paralysis, and ophthalmoplegia; only neck rotation was retained in the terminal stage. Autopsy showed no lymphoma cells infiltrating the nervous system. Motor neurons survived in the spinal cord, but mean diameter of the ventral spinal nerve roots was reduced considerably. The gracile fasciculus and the sural nerve were more markedly degenerated than proximal portions. Morphometric study showed that most of the proximal motor and sensory axons did not extend distally. This autopsy report provides further definition of a neuropathy associated with malignant lymphoma and IgM antibodies against disialosyl residues.

2004年9月から11月にかけて新潟, 山形や秋田を中心に, 原因不明の急性脳炎 (脳症) が多発した. 多くの患者は末期腎障害があり, スギヒラタケを摂取していたという共通事項があった. 秋田県では24例の届け出があった. 24例中17例は慢性透析患者であり, 3例は保存期腎不全であった. 本研究は17例の脳症発症透析患者において, 何らかの共通した臨床背景や透析条件が急性脳症発症に影響しているかを検討した. その結果, 平均年齢64.2歳, 平均透析期間56.8か月, 男性9女性8, 腎不全の主たる原因疾患は糖尿病性腎症と慢性腎炎であった. 17例の共通事項は, 血液透析患者であることとスギヒラタケ摂取だけであった. 服用薬剤, 透析液, 抗凝固剤や透析膜に特徴的なものはなかった. さらに, 2施設102名の透析患者を調査し, スギヒラタケ摂取率と急性脳症発症率を検討した. 102名中57名 (55.8%) がスギヒラタケを摂取し, 57名中5例 (8.7%) が急性脳症を発症, 5例中2例 (40.0%) が急性脳症によって死亡した. 本調査では血液透析とスギヒラタケ摂取以外に, 他に共通した臨床背景や透析条件は見い出すことができなかった. 原因究明のためのさらなる検討が必要である.

To investigate the need for pre- and post-graduate education for neurologists, the subcommittee of the Japanese Society of Neurology for education performed a questionnaire-based survey in 80 medical universities throughout Japan. The response rate to the questionnaire was 82.5%. Textbooks for lectures for medical students were used in only 22.7% of those universities. If the Japanese Society of Neurology (JSN) made a standard text, 77.8% of universities would like to use it. Most of the training programs for residents were compatible with the minimum requirements of the JSN. Just 66.7% of those training programs were completed in their own institute, and 77.3% of universities required help from the JSN.

To evaluate postgraduate neurological education, a questionnaire-based survey regarding junior and senior doctor-in-training and the Board Certification Examination in Neurology was carried out on the training supervisors of 690 insitutes, excluding 80 university hospitals. The institutes included 243 teaching hospitals, 326 semi-teaching hospitals and 121 education-associated institutes authorized by the Japanese Society of Neurology (JSN). The results were obtained from 388 institutes, and the response rate was 56.2%. The percentage of junior doctors-in-training that received training in neurology was 68.6% (the average of 2.1 months during 2 years). More than half of the institutes did not have any teaching programs for junior doctors-in-training who did not train in neurology. In senior doctors-in-training, the number of senior doctors-in-trainings per year per institute was 0.44 and was only able to experience limited types of disorders. Also, many institutes could not achieve training goals by the institutes themselves (56%). The problems were due to lack of teaching staffs and manpower, and there were many requests to the Society regarding training methods. As for the Board Certification Examination in Neurology by the Society, it was revealed that there were small number of candidates per year per institute, and over half of institutes could not sufficiently teach and support them. Most requests to the Society were regarding teaching seminars and hands-on courses, and some institutes asked small group meetings for arts and techniques of neurology to be held the Regional Society. In conclusion, there are problems that cannot be solved by individual institutes alone, and we need procedures for postgraduate training in neurology that is organized by the Regional and JSN working as the central organization.

Gait analysis was performed in patients with various vestibular systems using a tactile sensor. There were 4 patients with vestibular neuronitis, 6 patients with large acoustic neuroma and 6 patients with spino-cerebellar degeneration (SCD). Gait phase related parameters such as stance, swing and double support were studied to assess gait stability. Also the area ratio of trajectories of center of force during stance and progression of foot pressure were checked. The calculated value of each variable became high in pathological cases compared with normal controls, and the highest value was obtained in the SCD group. As regards the effect of visual deprivation on stability of gait, the most striking change was found in the large acoustic neuroma group. In a case with a unilateral lesion such as vestibular neuronitis and large acoustic neuroma, foot pressure was greater on the lesion side, especially during gait with eyes closed. As for the foot pressure progression curve, the SCD group showed the most irregular pattern in general, although there were some individual variations. Those results could reflect a functional disorder of the gait control system caused by each disease. Significance of gait analysis is also discussed.

We investigated the prevalence of dystonia in Akita Prefecture (population was 1,166,967 as of 1 November 2004). The prevalence of primary generalized and focal dystonia is estimated to be 0.68 and 14.4 per 100,000 persons, respectively. Blepharospasm is the most common primary dystonia in this area.

We studied the levels of serum hepatitis C virus (HCV)-RNA, the HCV genotype before interferon therapy, and the kinetics of serum HCV-RNA at the initial stages of therapy to determine their utility in predicting the therapeutic efficacy of interferon in 44 patients with chronic hepatitis C infection. We also looked at the efficacy of repeated interferon treatment in relation to the kinetics of serum HCV-RNA. The level of serum HCV-RNA determined by a branched DNA probe assay before interferon treatment and that by a reverse transcription nested polymerase chain reaction assay during the initial stages of interferon administration were useful for predicting the efficacy of treatment. Furthermore, detection of serum HCV-RNA by the reverse transcription nested polymerase chain reaction assay after the completion of interferon therapy indicated relapse at its earliest stage. In patients who experience relapse, repeated treatment with an appropriate dose of interferon before an increase in viral levels may increase the proportion of complete responses.

GB virus C (GBV-C) and hepatitis G virus (HGV) seemed to be the cause of hepatic injury in a setting of both acute and chronic infection. Some patients with hepatitis C virus (HCV) infection were coinfected with GBV-C/HGV. In the present study, we examined the effect of interferon on the GBV-C/HGV in chronic hepatitis C patients who were coinfected with GBV-C/HGV, in order to clarify the clinical significance of GBV-C/HGV infection. For GBV-C/HGV-RNA detection, the reverse transcription-nested polymerase chain reaction (RT-PCR) with primers from the 5′ untranslated subgenomic region was used. For GBV-C/HGV-RNA quantitative analysis, competitive RT-PCR was employed. Polymerase chain reaction products were directly sequenced. During IFN therapy, serum GBV-C/HGV-RNA became negative in nine patients (90%). However, a breakthrough of GBV-C/HGV was seen in two patients (20%), a virological relapse was seen after the cessation of IFN therapy in four patients (40%), and only three patients (30%) were sustained as negative. The changes in serum alanine aminotransferase levels after the cessation of IFN therapy correlated well with the changes in HCV-RNA. However, the correlation with GBV-C/HGV-RNA was poor. These results suggest that [1] GBV-C/HGV is sensitive to IFN therapy; and [2] In chronic hepatitis C patients coinfected with GBV-C/HGV and HCV, HCV appears to be involved with hepatocellular injury. It is less likely that GBV-C/HGV is directly involved in the initiation and progression of hepatic injury.

A controlled trial comparing combination therapy with ofloxacin (OFLX) and interferon (IFN) versus IFN monotherapy was conducted in patients with chronic hepatitis C who failed IFN therapy. Twenty patients were assigned randomly to two groups. Equal doses of recombinant IFNα-2b were administered to each group for 24 weeks. For the IFN plus OFLX group, OFLX was administered for 12 weeks at a daily dose of 600 mg. Levels of hepatitis C virus RNA declined significantly from the first month after the start of IFN treatment compared with those before administration in both groups. Serum alanine aminotransferase levels were significantly lower in the IFN plus OFLX group at two and six months after the start of treatment than levels in the IFN group. The fraction of subjects whose levels of serum ALT normalized was also higher in the IFN plus OFLX group. Larger clinical trials should be undertaken.

Objectives. AicardiGoutieres syndrome (AGS) is a rare, genetically determined, early onset progressive encephalopathy associated with autoimmune manifestations. AGS is usually inherited in an autosomal recessive manner. The disease is rare, therefore the clinical manifestations and genotypephenotype correlations, particularly with regard to autoimmune diseases, are still unclear. Here we performed a nationwide survey of AGS patients in Japan and analysed the genetic and clinical data. Methods. Patients were recruited via questionnaires sent to paediatric or adult neurologists in Japanese hospitals and institutions. Genetic analysis was performed and clinical data were collected. Results. Fourteen AGS patients were identified from 13 families; 10 harboured genetic mutations. Three patients harboured dominant-type TREX1 mutations. These included two de novo cases: one caused by a novel heterozygous p.His195Tyr mutation and the other by a novel somatic mosaicism resulting in a p.Asp200Asn mutation. Chilblain lesions were observed in all patients harbouring dominant-type TREX1 mutations. All three patients harbouring SAMHD1 mutations were diagnosed with autoimmune diseases, two with SLE and one with SS. The latter is the first reported case. Conclusion. This study is the first to report a nationwide AGS survey, which identified more patients with sporadic AGS carrying de novo dominant-type TREX1 mutations than expected. There was a strong association between the dominant-type TREX1 mutations and chilblain lesions, and between SAMHD1 mutations and autoimmunity. These findings suggest that rheumatologists should pay attention to possible sporadic AGS cases presenting with neurological disorders and autoimmune manifestations.

A 55-year-old woman was treated at our hospital for multiple sclerosis. Therapy consisted of glucocorticosteroids and cyclosporin. In the 7th week after these drugs were discontinued the patient developed acute liver failure due to fulminant hepatitis (FH) and died. Post-mortem examination showed massive liver necrosis. Serologic examination was negative for hepatitis B virus-related markers. Anti-hepatitis C virus (anti-HCV) antibody and serum HCV RNA were negative on admission, but HCV RNA appeared concurrently with the onset of FH. Although HCV infection rarely causes FH, it was considered to be the cause of FH in this patient, since there were no other causes of acute liver injury. We suspect that underlying immunologic abnormalities in conjunction with HCV infection may have precipitated the FH.

We examined transversely the thymus of 33 myasthenia gravis (MG) patients followed up for more than 5 years and found three thymomas. One was found 21 years after thymoma resection (Masaoka I, WHO Type B2 thymoma) and extended thymectomy. The other two were non-thymomatous at onset, and they were not treated with extended thymectomy. Therapeutic guidelines should mention the importance of follow-up in MG thymus.

皮膚筋炎の消化管合併症は多彩であるが消化管穿孔は稀である.著者らは盲腸穿孔を合併した皮膚筋炎を経験したので,若干の文献的考察を加えて報告した.症例は45歳男性.昭和63年12月,躯幹の皮下硬結に始まり,全身の筋肉痛,発熱,顔面の紅斑と浮腫が生じた.症状は急速に進行し,歩行,寝返り,食事など,日常生活が著しく困難となり入院となった.CPKの著明な上昇(17520IU/1),筋電図で筋原性所見がみられ皮膚筋炎と診断し,パルス療法を含むステロイド治療を行った,入院第20病日に右下腹部痛が出現した.腹部および胸部単純X線写真でfree airを認め消化管穿孔と診断した.開腹術では盲腸に穿孔を認め,盲腸瘻を造設した.術後prednisolone,ciclosporinの併用により症状は徐々に回復した.回盲部切除,回腸上行結腸吻合術を施行し,独立歩行可能となり平成2年5月退院となった.

To investigate the current state of education for undergraduates, the subcommittee of the Japanese Society of Neurology for undergraduate education sent a questionnaire on the 2001-version of Model Core Curriculum to the department of neurology in 80 medical universities and their 7 associate medical institutes throughout Japan. Answers were obtained from 56 out of those 87 institutes (64.4%). According to the answers, the Core Curriculum was introduced to the program of undergraduate education in 93% of those 56 universities. For the revision of neurology part in the current Core Curriculum, there are number of requests for improving the description on the neurological examination, list of common symptoms and disorders, and addition of therapeutics. Despite application of the Model Core Curriculum in medical education, the present study disclosed that there were considerable difference in the number and content of the lectures, and the duration of clinical clerkship in neurology ward. These differences of the curriculum and training program depends on not only the number of staffs, but also whether they are working as staffs in a department of neurology or as a small group of neurologists within a department other than neurology.

The authors report an autopsy case of acute encephalopathy in which generalized convulsion and coma occurred after ingestion of Pleurocybella porrigens (angel's wing mushroom). The patient was a 65-year-old man who had undergone hemodialysis for 3 months due to chronic renal failure. Pathologic examination of the brain revealed extensive postinfarction-like cystic necrosis in the bilateral putamens and multiple spotty necroses in the deep cerebral and cerebellar cortices. In 2004, similar acute encephalopathy related to ingestion of the mushroom was endemic in Japan, the pathogenesis of which remains to be elucidated.

Sixty-one chronic hepatitis C patients were randomly assigned to receive either 6x106 or 9x106 U of recombinant interferon-alpha-2a (IFNα-2a) six days a week for the first two weeks of treatment, followed in both cases by 6x106 U three days a week for the next 22 weeks. In the low dose group, 11 patients showed a complete response maintained for at least six months, 12 responded but then relapsed and nine did not respond; the corresponding figures in the high dose group were 10, 15 and five patients, respectively. The differences between groups are not statistically significant. Thus, this study provides no evidence of therapeutic benefit from increasing the initial dose of IFNα-2a. In both treatment groups, complete responders had significantly lower pretreatment viral titres than nonresponders and were significantly more likely to be infected by type 2a versus type 1b virus.

We previously reported two siblings with decreased subcutaneous adipose tissue, muscular atrophy, joint contractures, recurrent skin eruptions, hyper-γ-globulinemia, and reduced natural killer cell activity. Some of their clinical features are similar to those of partial lipodystrophy, but they are distinct in that muscular atrophy, joint contractures and recurrent skin eruptions are not found in patients with partial lipodystrophy. Thirteen other Japanese patients with similar clinical manifestations have been reported. We propose that such cases should be considered a distinct clinical entity.(Internal Medicine 32: 42-45, 1993)

ISHIDA, A., TAKADA, G., KOBAYASHI, Y., TOYOSHIMA, I. and TAKAI, K. Effect of Tetrahydrobiopterin and 5-Hydroxytryptophan on Hereditary Progressive Dystonia with Marked Diurnal Fluctuation: A Suggestion of the Serotonergic System Involvement. Tohoku J. exp. Med., 1988, 154 (3), 233-239-A daughter and her mother developed hereditary progressive dystonia with marked diurnal fluctuation (HPD) at the age of 4 and 34, respectively. L-Dopa, tetrahydrobiopterin (BH4) or 5-hydroxytryptophan (5-HTP) was orally administered to them. L-Dopa cured completely their symptoms. 5-HTP as well as BH4 improved their symptoms, especially dystonic movements. Biopterin and 5-hydroxyindoleacetic acid concentrations in CSF increased during BH4 medication. These findings suggest that the serotonergic system of the central nervous system might play some role in the pathogenesis of dystonia in HPD.

We report a 58 year-old man with various neurological symptoms as parkinsonism, autonomic dysfunction, mental deterioration and lower motor neuron involvement associated with IgM gammopathy whose serum showed antibody activities to human brain proteins. His serum reacted with 156kDa protein from substantia nigra and IBOkDa of cerebral cortical grey matter, cerebellar cortex, putamen, thalamus or pallidum by immunoblotting method. The serum of this patient reacted with proteins widely distributed in the central nervous system, and this antibody in his serum might be the cause of his various neurological symptoms.