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Establishment of an economic foundation for clinical neurologists is essential for the advancement of neurology in Japan. However, this concept sometimes seems to slip easily from the minds of neurologists in academia. This has been true in the history of the Japanese Society of Neurology for half a century. Japan has a system of public health insurance for all people, but there are many problems related to medical pay that need to be discussed, especially for doctors seeing patients. Almost all Japanese doctors have been worried about the low medical pay in the Japanese health insurance system. We have made various approaches to the Ministry of Health, Labor and Welfare to solve these economic problems, but our hard work for the improvement of our economic situation has often been unsuccessful. The Japanese Society of Neurotherapeutics took a step toward dealing with this problem with a symposium to discuss medical payments in 2002, and it has contributed to progress in the economic and financial systems for health insurance from the standpoint of clinical neurology. We Japanese neurologists need to make greater efforts to improve our poor economic situation, following the success of Japanese surgeons in their diligent work with the Ministry of Health, Labor and Welfare to improve critical conditions in the field of surgery.

This report describes a case of a 17-year-old girl with Charcot-Marie-Tooth disease (CMT) representing rigid spine and respiratory failure. At age 11, she tended to walk on her toes and had difficulty in getting up from the floor without support. She became aware of flexion limitation of the neck at the age of 12. At 15 years of age, She began to have dyspnea on effort. When she was 17 years old, neurological examination revealed mild weakness of the upper extremities and severe weakness of the distal lower extremities, generalized wasting and areflexia. Superficial sensation was mildly impaired distally, and vibration sensation was severely impaired in the lower extremities. Motor and sensory nerve conduction velocities were mildly reduced, and compound muscle action potential of the tibial and peroneal nerves and sensory nerve action potential on ulnar and sural nerves were absent. Electromyography showed neurogenic changes with denervation potentials. Sural nerve biopsy revealed severe loss of myelinated fibers without any onion-bulb formation. As for family history, her elder sister showed moderate loss of vibration sensation in the lower extremities. On the basis of these findings, she was diagnosed as having CMT type 2, though a mode of inheritance was uncertain. She also had peculiar findings of flexion limitation of the spine (rigid spine), contracture of the hip joint, and fatty degeneration of paraspinal muscles on CT. Percent vital capacity (VC) was 22.5%, and arterial blood gas analysis showed PaO2 of 60.5 mmHg and PaCO2 65.0 mmHg. To our knowledge, this is the first case of CMT accompanied by rigid spine and respiratory failure. Motor and sensory neuropathy combined with rigid spine also have not been reported previously. The relationship between rigid spine syndrome with neurogenic muscular atrophy and CMT type 2C with the clinical characteristics of diaphragm and vocal cord paresis is discussed.

A 15-year-old boy developed ataxic gait, diplopia and hoarseness. Within 3 days after the onset, he had additional symptoms of dysphagia and dysarthria. He was admitted to our hospital 7 days after the onset of the disease. On admission, he had total ophthalmoplegia, ataxia, areflexia, facial diplegia, bulbar palsy and weakness of the neck and upper arms. Serum anti-GQ 1 b and anti-GT 1 a antibodies were significantly elevated. A diagnosis of Fisher syndrome associated with pharyngeal-cervical-brachial weakness was made. He was placed on a high dose of intravenous immunoglobins (12.5 g/day x 2 days) and had steroid pulse therapy (methylprednisolone 1 g x 3 days), which resulted in an almost complete recovery. There have been no reports of Fisher syndrome associated with brachio-pharyngeal-palsy. As in the case of the pharyngeal-cervical-brachial variant of Guillain Barré syndrome, anti-GT 1 a antibodies may be associated with Fisher syndrome with pharyngeal-cervical-brachial weakness.

We reported a 60-year-old female patient with HTLV-I associated myelopathy (HAM) accompanied by primary biliary cirrhosis (PBC) and autoimmune hepatitis (AIH). The diagnosis of PBC and AIH was confirmed by liver biopsy. HAM is considered to be mediated by cellular immune mechanisms, while humoral immune mechanisms may play a predominant role in the development of PBC and AIH. Flowcytometric analysis of lymphocyte subset of peripheral blood was within normal limits. We then collected CD4 positive cells from the patient. These cells expressed T helper 2 (Th 2) cytokine mRNA such as IL-4 and IL-10, but did not express Th 1 cytokines, indicating the predominance of Th 2 in this patient. This case suggested the possibility that disease associated Th 2 might develop in the course of Th1-mediated disease like HAM.

A 69-year-old woman developed paraplegia and hypesthesia on upper extremities and below T4 level. Examination of cerebrospinal fluid showed increased protein levels and pleocytosis. MRI of the cervical spinal cord revealed syrinx formation from C3 to upper thoracic cord. A diagnosis of acute transverse myelitis was made. A high dose of corticosteroid including pulse therapy did not improve her symptoms and signs of myelopathy, but the syrinx could not be found thereafter. One year later, she developed severe visual loss due to bilateral optic neuritis which was improved spontaneously. The clinical course and MRI findings were similar to those of the optic-spinal form of multiple sclerosis (MS). The presence of anticardiolipin antibodies, lupus anticoagulant and perinuclear anti-neutrophil cytoplasmic antibodies, however, strongly suggested that vasculitic and/or ischemic mechanisms induced by these autoantibodies might play a role on the development of the disease. We conclude that our case should be distinguished from MS.

We studied 12 patients with Parkinson disease who scream while sleeping. All 12 patients showed clinical manifestations and brain images of typical idiopathic Parkinson disease. On average, the screaming began 4.8 years after the onset signs and symptoms of Parkinson disease. In many cases, sleep talking started before the onset of Parkinson disease. All patients reported that the screaming disrupted the sleep of their families, and half of the patients reported that the screams disturbed their own sleep. The screams were incorporated into their dreams. Clonazepam was effective to alleviate this screaming in 8 out of 9 cases. We considered this screaming to be caused by similar mechanisms as rapid eye movement (REM) sleep behavior disorder in which muscle atonia characterizing normal REM sleep is absent. The screams were not accompanied by other abnormal behaviors. We postulate that the screaming is a symptom closely related to that of mid or lower brainstem lesion in Parkinson disease because the neural activity of the locus ceruleus or the pudunculopontine nucleus are responsible for muscle atonia in REM sleep.

The report deals with the first description of two siblings, a 43-year-old woman and 39-year-old man, who have developed cerebellar ataxia, choreoathetosis, dementia, epilepsy, hyperelasticity of the skin, and hypermobility and dislocation of joints. The frequent dislocations of joints sometimes could not be corrected surgically. Their mother and maternal uncle have the same neurological signs and symptoms as the siblings do. However, they do not present with the signs of skin and joints. Gene analysis of peripheral blood lymphocytes from these 4 patients revealed that the CAG repeat length of the dentato-rubro-pallido-luysian atrophy (DRPLA) gene is increased in all four. On the contrary, their father has displayed only hyperelasticity of the skin. From the clinical signs, family history and skin biopsy, we consider that the siblings and their father have Ehlers-Danlos syndrome (EDS) type III. In conclusion, the previously unreported coincidental development of maternal DRPLA and paternal EDS observed in two siblings deserves to be described.

The patient was a 25-year-old male with acute multifocal motor neuropathy with conduction block (MMNCB) after Campylobacter jejuni enteritis. After having suffered from diarrhea for 3 days, he rapidly developed asymmetrical distal-dominant muscle weakness in all extremities. Sensory disturbance was unremarkable except for slight disturbance in deep sensation. Deep tendon reflexes were normal throughout the course of present illness. CSF analysis revealed increased protein up to 66 mg/dl without pleocytosis. In electrophysiological examinations, persistant multifocal conduction blocks in the motor nerves were predominantly noted in the distal part of the extremities. Serum titers of anti-Campylobacter jejuni antibody, anti-GM1 antibody and anti-GalNAc-GD1a antibody were elevated. Muscle weakness resolved completely within 7 weeks. The sural nerve biopsy did not reveal either axonal degeneration, nor demyelination. These clinical and laboratory findings suggested that this case was most likely an acute type of MMNCB after Campylobacter jejuni enteritis.

We reported a case of idiopathic hypereosinophilic syndrome with psychiatric symptoms and abnormal areas in subcortical white matter on brain MRI. The 25-year-old man was referred to us because of fever, confusional state and emotional incontinence. He soon became apathetic and emotionless. While he was confused, we studied brain CT twice and brain MRI four times. In deep white matter around the lateral ventricles and the cortices of parietal lobe, occipital lobe and cerebellar hemispheres, T1-weighted MRI revealed low intensity areas and T2-weighted MRI showed high intensity areas. After gadolinium infusion, some above-stated areas were enhanced. The lesions in the deep white matter disappeared when symptoms diminished, while lesions in the occipital cortex remained unchanged. Brain MRI studies were beneficial and useful to analyse the rare idiopathic hypereosinophilic syndrome with psychic disorders.

We reported a sporadic case with late onset SCA1. There was no family history of neurological diseases. His parents had been healthy until they died at the age of 77 and 89 years, respectively. The patient noticed gait disturbance at age of 60. Thereafter, he gradually developed cerebellar ataxia, hyporeflexia, mild atrophy of the facial and limb muscles and moderate deep sensory disturbance. MRI of the brain showed moderate atrophy of the cerebellum and brainstem. Sequencing analysis of SCA1 gene demonstrated that the patient had an expanded allele with 40 CAG repeats and no CAT interruption. Consequently, he was diagnosed as having SCA1. These results suggest the possibility that among apparently sporadic cases with cerebellar ataxia, there are some cases of SCA1 with mild CAG repeat expansion.

We report a case of dystrophia myotonica (DM) in a 38-year-old man with homozygous DM kinase abnormality. His distal muscle strength was reduced moderately; muscle biopsy showed type 1 predominance and type 1 fiber atrophy. The patient's WAIS total IQ score was under 60. Since his childhood, his cognitive deficit has been more severe than his muscle weakness. MRI demonstrated many abnormal changes in the brain of this patient, but these changes were mild in comparison to the severity of his reduced cognition and low IQ. The relationship between mental dysfunction and DM kinase abnormalities is quite different from that seen in cases of heterozygous DM kinase abnormalities. This case demonstrated severe mental changes in spite of mild DM kinase abnormalities. We suspect the homozygous DM kinase abnormality to be a cause of the different clinical presentations of this patient.

We describe the relation of the CAG repeat length to the genetic anticipation in a Japanese family with dentato-rubro-pallido-luysian atrophy (DRPLA). The proband, a 21-year-old woman, developed epilepsy at age 19. Her mother has displayed cerebellar ataxia, choreoathetosis, and dementia since age 40, and the grandmother has shown cerebellar ataxia since age 52. So a genetic anticipation was observed. The CAG repeat sizes of peripheral blood lymphocytes from the proband, mother, and grandmother were found to be 61, 59, and 60, respectively. Thus, the mother showed earlier onset but a smaller CAG repeat length as compared to the grandmother. This case is thought to be rare and valuable in respect that the intergenerational contraction of the CAG repeat was shown in spite of the genetic anticipation was observed.

We studied the sympathetic skin responses (SSRs) in the face with magnetic stimulation of the neck, in 10 normal healthy subjects. The SSRs were recorded with surface electrodes placed on the forehead, the lower eyelid, the apex nasi, two points of cheek (one is near the ear, and another is near the mouth), the upper lip, and the lower jaw. Reproducible SSRs were obtained easily at the forehead and the upper lip compared to the other parts of the face. The SSRs on the forehead and upper lip were constantly evoked after drinking of hot water. Mean latencies are 0.98 +/- 0.22 sec. (mean +/- 1SD) at the forehead, and 0.89 +/- 0.12 sec. (mean +/- 1SD) at the upper lip. In the cervical sympathetic pathway, one part of postganglionic fibers runs along the internal carotid artery to innervate the eyelids and forehead, whereas another part runs along the external carotid artery to innervate other parts of the face. It suggests that the forehead and the upper lip are representative parts of those different innervations SSRs in the forehead and the upper lip could be useful for evaluating the sympathetic function of the face in various diseases.

We studied the relationship between muscle pathology and the number of trinucleotide (CTG) repeats observed in lymphocytes and biopsied muscle tissues from patients with dystrophia myotonica (DM). The diameter of type 1 muscle fibers was smaller than that of type 2 fibers in all patients. The diameter and proportion of each muscle fiber type were related to the patient's age, but not to the number of trinucleotide (CTG) repeats of DM kinase in biopsied muscles. On the other hand, the proportion of type 1 fibers with central nuclei was closely related to the number of trinucleotide (CTG) repeats in muscles. These findings suggest that DM kinase abnormalities influence the muscle nuclei, and increase the number of central nuclei.

Serum levels of soluble intercellular adhesion molecule-1 (sICAM-1) and soluble vascular cell adhesion molecule-1 (sVCAM-1) were measured by ELISA in patients with 18 inflammatory myopathies as well as 23 healthy controls. Both serum sICAM-1 and sVCAM-1 levels were elevated in patients with active polymyositis. Serum sVCAM-1 levels were elevated in the active stage of dermatomyositis, while sICAM-1 levels were elevated only in patients with dermatomyositis complicated with interstitial pneumonia. In paired serum samples before and after prednisolone therapy, elevated serum sICAM-1 and sVCAM-1 levels decreased in patients responding well to steroid therapy without complications. These findings suggested that soluble adhesion molecules reflect as the clinical activity of inflammatory myopathies.

Plasticity within the human central motor system has been studied with transcranical magnetic stimulation in patients with peripheral and central nervous diseases. In 4 patients with a complete upper limb palsy due to traumatic cervical root avulsion, surgical anastomosis of intercostal to musculocutaneous nerves was performed to restore function in the biceps brachii muscle. The motor unit discharges became independent from respirations gradually over 1 to 2 years. Motor cortex mapping of the reinnervated biceps muscle showed a gradual change over 4 to 33 months from the area of the intercostal muscles to that of the arm area, which was more lateral on the motor cortex. These findings suggest that reorganization of the motor cortex to arm flexor muscles occurs following peripheral nerve anastomosis. In 8 patients with chronic cerebral infarction with hemiplegia. Four of 8 patients did not show MEPs in paralytic hand muscles by contralateral cortex stimulation, but showed small MEPs by ipsilateral cortex stimulation. These cases had the huge cortical infarction unilaterally in CT. Another four of 8 patients showed small MEPs in paralytic hand muscles by contralateral cortex stimulation, but no MEPs by ipsilateral cortex stimulation. These cases had the subcortical infarction unilaterally in CT. These findings suggest that reorganization of motor cortex following unilateral cerebral infarction.

It is often difficult to estimate slight alterations in the severity of ataxia by bed-side neurological examinations. We analyzed the heel-knee tapping test, which has often been used as a standard bed-side examination to check incoordination in lower limbs, using a new motion measurement system "video/computer motion measurement system". We studied 9 normal controls and 21 patients with spinocerebellar degenerations (SCD). In patients with SCD, the up-and-down motion range of the heel was variable and the heel moved in the anterior-and-posterior direction, because of knee sways during the test. Following oral administration of TRH analogue, TA-0910, above-mentioned findings were clearly improved. Analysis of spatial and time elements of the knee joint demonstrated quantitative improvement. Therefore, an effect of TA-0910 on incoordination of the lower limbs could be proved objectively by a computer motion measurement system.

Immunohistochemical staining with anti-androgen receptor (AR) antibody was performed in skeletal muscle specimens obtained from 3 cases with bulbo-spinal muscular atrophy (BSMA) and 12 cases with other neuromuscular disease. Anti-AR antibody staining was found exclusively in the muscle nuclei of Type 2A fibers in all of the 3 cases. But there was no positive staining in the muscle nuclei of other disease. As above mentioned, very specific immuno-staining of AR in skeletal muscle would be of benefit to diagnosis of BSMA in addition to identification of a mutation of AR gene.

A two-dimensional analysis of cerebellar ataxia was performed by using video-computer motion measurement system, PEAK, which has been developed and produced by U.S.-Japan-Chatanuuga Co., Ltd. The analyses of gait, heel-knee tapping test, finger-nose test and heel-knee test were made on 23 cases of spinocerebellar degeneration (SCD) as compared with the 9 healthy. The cases of SCD included olivopontocerebellar atrophy (OPCA), hereditary OPCA, late cortical cerebellar atrophy (LCCA), hereditary LCCA, Joseph disease and dentatorubropallidoluysian atrophy. The results of analyses by the computer demonstrated slow movement of gait, decrease of flexion angle at knee joint at the swing phase of the gait. Heel-knee test revealed irregular, dysrhythmic movements of heel. The interval of the tapping showed great variance and its standard deviation of the average was found to be increased. And the average values were so increased as to implement slow movements of the heel. These above-mentioned findings were also observed in the tests of finger-nose and heel-knee as well. Oral intake of TA0910, TRH derivative, which was synthesized and produced by Tanabe pharmaceutical Co. Ltd. in Japan improved slow movements of the tests. Disorders of range, direction, and rate of the movements, as usually observed in the patient of ataxia, could be well recognized to be alleviated following the administration and the effects were statistically significant. Application of the computerized instrument to analysis of ataxia would be very beneficial in the neurological bed-side clinical examination.

X-rays computed tomographic (CT) scans of muscles of the lower limbs and the trunk in 14 patients with facioscapulohumeral muscular dystrophy (FSH) were studied. The CT scans showed that the affected muscles were decreased in density and size. The laterality of muscular involvement was sometimes observed. The muscular lesions in the lower limbs showed proximal distribution. In the thigh, the hamstrings were affected first, the adductor muscles second, and then the muscular involvement progressed to the quadriceps femoris muscle. In the lower leg, the gastrocnemius and soleus muscles were relatively spared as compared with the tibialis anterior muscle. In the lumbar girdle, the abdominal muscles were involved first, the gluteal muscles second, the back muscles third, and the psoas major muscle were relatively spared. The muscular weakness of this distribution exacerbated lumbar lordosis. The neck muscles were less affected than those of the lumbar girdle. The CT scans in FSH demonstrated the characteristic pattern of muscular involvement, which differed from the inherited muscular diseases such as Duchenne muscular dystrophy, myotonic dystrophy, and others.

Myotonic dystrophy (MyD) involves a variety of systems. Respiratory disorders are common, namely elevation of diaphragm, alveolar hypoventilation, aspiration pneumonia and sleep apnea. We evaluated respiratory involvement. The subjects were 11 patients with MyD. Also 6 patients with limb girdle muscular dystrophy (LG) were examined to be compared with MyD. Both groups had the similar activities of daily living. All of them never complained of dyspnea. Arterial blood gas studies were performed in supine position and standing position. A new evidence was found that hypoxemia was aggravated and alveolar-arterial oxygen pressure difference was increased in supine position in MyD. Next, pulmonary function tests were done in supine position and sitting position. Functional residual capacity (FRC) were more reduced in supine position in MyD compared with LG. The value to subtract closing capacity from FRC was negative in supine position in MyD, showing closing phenomenon. We propose the mechanism of the aggravation of hypoxemia may be the following. The reduction of FRC caused by respiratory muscle involvement brings out the closing phenomenon. Abnormal uneven distribution of ventilation-perfusion ratio happens and then hypoxemia is worsened in supine position in MyD.

We studied mechanism to induce scoliosis in Duchenne muscular dystrophy (DMD) by use of X-ray computed tomography (CT) of paraspinal muscles. CT examination of paraspinal muscles was performed on 15 DMD patients at the following six levels; 1. Th3 vertebrae (upper thoracic spine level) 2. Th6 vertebrate (middle thoracic spine level) 3. Th10 vertebrae (lower thoracic spine level) 4. L1 vertebrae (upper lumbar spine level) 5. L3 vertebrae (middle lumbar spine level) 6. L5 vertebrae (lower lumbar spine level). We evaluated the degeneration of paraspinal muscle by a decrease in radio-density of the muscle which indicates infiltration of fatty tissue. The degeneration of the lateral portion of paraspinal muscle was more marked than that of the medial portion. The muscle was most severely affected at the middle lumbar spine level, showing a tendency to increase degeneration at the lower level of the spine. In cases showing laterality of the degeneration of paraspinal muscle, the less affected muscle on CT was located at the convex site of scoliosis. We speculate that the scoliosis occurs when DMD patients have asymmetrical paraspinal muscle degeneration, leading them to take compensatory posture.

We investigated the clinical features of 179 patients with late cortical cerebellar atrophy (LCCA) comparing with 382 patients with olivo-ponto-cerebellar atrophy (OPCA) and 91 patients with hereditary cortical cerebellar atrophy (HCCA) using multivariate analysis. They had no significant difference in durations from onset. Disorders of finger-nose test were of more severity and disorders of heel-knee test were less involved in LCCA than in HCCA. Eye movements tended to be normal in LCCA. LCCA showed more depressive and euphoric character than OPCA and HCCA. Analysis of LCCA and OPCA demonstrated that LCCA revealed hypotonia in muscles, normal or weak reactions of muscle stretch reflexes. There existed 21.4 percent of cases which could not be discriminated by multivariate analysis using clinical signs in LCCA and OPCA. Multivariate analysis of LCCA and HCCA, which are very similar in clinical signs, showed 66.3 percent of discriminatory rate. Thus, we could diagnose them to a certain extent only by clinical signs.

We assessed gait in Duchenne muscular dystrophy (DMD) mainly by determining alteration of foot pressure using a new gait analyzing procedure. DMD patients showed a characteristic foot pressure pattern according to their degree of dysfunction. In stage I disease, the observed pattern was the same as that of normal controls. In stage II, the period during which the center of foot pressure was seen in the front part of the foot was prolonged. This change became more marked in stage III. In stage IV, the center of foot pressure began at the head of the ossis metatarsalis primi and moved back and toward the lateral side. Thereafter, the center of foot pressure again moved forward along the outside of the foot. These changes were considered to be the result of talipes equinus and waddling gait, which are commonly demonstrated in patients with DMD.

We investigated diurnal sleep apnea in myotonic dystrophy with respiratory inductive plethysmography. Five of eight patients met criteria for sleep apnea syndrome and had central apnea mainly. In a case showing periodic breathing with apnea like Cheyne-Stokes type breathing, the duration of apnea and breath was even and the tidal volume went waxing and waning regularly. In the other four cases, central apneas were observed in sequence, but the duration of apnea and the tidal volume changed variously. Large breaths between apneas elevated arterial oxygen saturation rather than stable breaths without apnea. We suspected that hypoxemia, which exacerbated by involvement of respiratory muscles, supine position and sleep, initiated the hyperventilation between apneas. And then the saturation of oxygen raised by hyperventilation would cause central sleep apnea.

MRI and dynamic CT studies were performed in a young male with juvenile muscular atrophy of unilateral upper extremity (JM) with onset at age 15 and clinical course of 2 years. The mechanism of development of congestion in vertebral venous plexus was considered. Dynamic CT of the head in the neck flexion showed rapid reflux of blood from the intervertebral veins into the posterior internal vertebral venous plexus at the C5-C6 level and consequent congestion. It is speculated that in this patient some mechanism associated with head anteflexion led to a reflux into the valveless posterior internal vertebral venous plexus and congestion as well. Furthermore, it could be considered that anterior shift of the dural sac at the time of head anteflexion plays an important role in the development of this internal vertebral venous plexus congestion in JM.

A 40-year-old woman developed high fever and headache. Five days later, she was admitted because of consciousness disturbance and tremulous movements in upper extremities. The paired sera showed more than fourfold elevation in complement fixation titer to Japanese encephalitis virus. She was diagnosed as Japanese encephalitis from the clinical features and serological tests. Magnetic resonance imaging (MRI), which was performed about seven months after the onset, revealed abnormal intensity areas bilaterally in the thalamus, hippocampus, substantia nigra, globus pallidus and white matter around the lateral ventricle. Eight months after the onset, she was left with bradykinesia, disturbance of rightening reflex, emotional lability and impairment of recent memory with a long period of amnesia, including not only her illness and subsequent events but also about several years before her illness. The characteristic memory dysfunction seems to be due to disorder of bilateral hippocampus, where MRI revealed abnormal intensity areas. And disorder of medial thalamic nucleus would be related to emotional liability. The relation between the clinical features and MRI findings is also discussed.

We reported a case of hypertrophic neuropathy of adult onset. The pathological change in the sural nerve was decreased axonal population with onion-bulb formation. On examination, there were enlarged nerve on palpation and she was found to have distal muscle atrophy, weakness and sensory loss. The deep tendon reflexes of extremities were weak. The first clinical feature of this patient was mainly polyneuropathy. The lower limbs were slightly spastic and plantar responses were extensor bilaterally. There was also sensory level at C6 level. After 1.5 years from first examination, she had shown myelopathy. Magnetic resonance imaging (MRI) of the spine showed marked thickening of the nerve roots and it revealed the compression of the spinal cord by enlarged nerve roots from C2 to C6 level. The compression syndrome of the patients with hypertrophic neuropathy was unclear at the onset in this case. MRI study of the spinal cord would be very beneficial to disclose subclinical myelopathy associated with hypertrophic neuropathy, as indicated in this report.

The mercury and selenium content in the hair of 13 ALS cases was studied by neutron activation analysis. The total mercury content of the hair was 3.70 +/- 2.73 ppm (mean +/- standard deviation) in the ALS patients as a whole, 4.46 +/- 3.16 ppm in the ALS patients from the middle of Kii Peninsula, and 2.49 +/- 1.38 ppm in the ALS patients from other region. As the comparison, mercury content was 2.43 +/- 0.79 ppm in the patients with Parkinsonism, and 2.10 +/- 1.13 ppm in the patients with multiple sclerosis (MS). The selenium content of the hair was 0.36 +/- 0.35 ppm for all ALS patients as a whole, 0.45 +/- 0.25 ppm in the ALS patients from the middle of the Kii Peninsula, and 0.21 +/- 0.47 ppm in the ALS from other region. There were no cases with higher values than mean values of control group, except one case from other regions. It is well known that the selenium decreases the toxicity of mercury in the human body. From these data mercury with low content of selenium might be one of the environmental factors which are thought to be involved in producing of ALS.

We report the characteristics of high field magnetic resonance imaging (MRI) of three siblings with hereditary spastic paraplegia (HSP), probably of autosomal recessive inheritance. The proband was a 25-year-old woman who manifested slowly progressive spastic paraplegia, mental deficit, decayed teeth since her childhood. The siblings of the proband, 29-year-old woman and 27-year-old man, also showed the same clinical course as hers, and the symptoms are more severe in elder siblings. The proband solely had ichthyosis on her neck and lower thighs, which suggested Sjögren-Larsson syndrome. Sagittal and transverse slices of high field MRI (1.5T), T2-weighted (SE 2800/90) and T1-weighted (500/15) images were obtained. The cerebral atrophies were observed in the frontal and the parietal lobes, especially at the precentral and superior frontal gyri, whereas the occipital lobes were relatively spared. The atrophies of motor cortex seemed to be responsible for the disorder of voluntary movement. T2WI demonstrated a diffuse hyperintensity in the cerebral white matter, which suggested demyelination. T2WI also showed remarkable hypointensities in the globus pallidus, putamen, and thalamus. The degenerative involvement in these regions was also suspected. These abnormal intensities, both hyper- and hypo-intensities, were stronger in elder siblings, which indicated the intensity changes to be of progressive nature. Severe atrophy or hypoplasia of corpus callosum was also observed, however the cingulate gyri could be confirmed. We were not able to detect the callosal disconnection syndrome, because of their severe mental impairment. Spinal cord was slender and its degenerative changes were suggested. The high field MRI of a HSP family showed the extensive abnormal findings of the central nervous system in this HSP family, such as cerebral motor area, extrapyramidal system, corpus callosum, and spinal cord.

The motor system of 13 cases with hereditary motor sensory neuropathy (HMSN) type I were analysed by clinical neurophysiological method. The motor conduction velocity (MCV) and F wave latency in lower motor neurone were markedly delayed. The latency of the muscle evoked potential (MEP) by cortical magnetic stimulation were also markedly delayed. The central motor conduction times (CMCT) were calculated by two methods. CMCT-mag was calculated by subtraction of the MEP by cervical magnetic stimulation from the MEP by cortical magnetic stimulation. CMCT-f was calculated by subtraction of the [(F wave latency -1 + distal latency)/2] from the MEP by cortical magnetic stimulation. There were positive correlation between CMCT-f and CMCT-mag. CMCT of HMSN type I were divided to two groups. CMCT of the first group was markedly delayed. CMCT of the second group was mildly delayed or normal. The former group showed marked weakness in distal muscles clinically. The latter group showed mild or moderate weakness in distal muscles clinically. All these patients did not show any pyramidal tract signs, which could be covered by severe lower motor neurone involvements. The classification of HMSN type I by gene was well known, genetical analysis might be important to these groups in HMSN type I.

Blink reflex (BR) was composed of R1 and R2. R1 is considered to indicate the brainstem function. The purpose of this study was to evaluate the brainstem function of spinocerebellar degeneration (SCD) by the R1 latency (R1). BR was evoked by the percutaneous stimulation of supraorbital nerve. And R1 was measured by the action potential of orbucularis oculi muscle. Direct response was recorded by the percutaneous stimulation of facial nerve to determine the terminal latency of facial nerve (D). By these methods R1, D, R1/D and difference between at right and left side of these data (delta R1, delta D, delta R1/D) were measured in 21 normal subjects (57.7 +/- 10.1 ys.) and 28 cases of SCD (56.6 +/- 8.2 ys.), including 12 cases of sporadic type olivopontocerebellar atrophy (SOPCA), 4 of Menzel type olivopontocerebellar atrophy (MOPCA), 6 of late cortical cerebellar atrophy (LCCA) and 6 of Holmes type cortical cerebellar atrophy (HCCA). There was no difference between all types of SCD and normal subject at D, but significant difference of R1 and R1/d was observed between at MOPCA and normal subject. Concerning the difference between right and left side delta R1 and delta R1/D showed the significant difference with MOCA and SOPCA, but delta D showed no difference. Elongation of R1 and R1/D without the delay of facial nerve and the significant difference of R1 and R1/d between at right and left side suggested the synaptic transmission disorder form trigeminal nerve to facial nerve at brainstem of MOCA.

MRI findings of four hemiballism cases are described, and pathophysiology, pathogenesis and treatment of hemiballism are discussed. All cases had no family history. The lesions revealed by MRI and the pathogenesis were different each other. Case 1, a 17 years aged girl with a history of hyperthyroidism and repeated tonsillitis, showed right sided hemiballism which was recovered by prednisolone and haloperidol. Although her involuntary movement was ameliorated by administration of sodium valproate and phenytoin, phenytoin caused allergic agranulocytosis which required prednisolone treatment. T2 weighted MRI at the 31st disease day demonstrated hyperintensities in the left caudate nucleus, putamen, lateral pallidum, perirubral area and substantia nigra. Hyperintensity in the prerubral area suggested involvement of the subthalamic nucleus or its connecting pathway. Fourteen months later, she suffered from convulsion and mental confusion. There were theta wave bursts and delta waves in EEG. No abnormal findings in MRI and positive antinuclear antibody (ANA: X320, speckled type) were observed. Case 2, a 78 year aged woman, suffered from right sided hemiballism. MRI findings at the 58th disease day were the left putaminal infarction and lacunar state in the bilateral caudate nuclei and the deep white matter of the centrum semiovale. There were no abnormal findings in the subthalamic nucleus. Case 3, a 51 year aged man with diabetes mellitus, had right sided hemiballism. X-ray CT at the 8th disease day showed hyperdensity in the left subthalamic nucleus region which could not be observed at the 12th day. Hypointensity in the left subthalamic nucleus region was observed in both T2 weighted and proton density MRI at the 52nd day. Case 4, an 82 year aged woman, had right sided hemiballism which remarkably diminished at the third disease day and disappeared by the fifth day. Any pathogenic lesion concerning to hemiballism was detected by X-ray CT or MRI.(ABSTRACT TRUNCATED AT 250 WORDS)

Neville and coauthors (1973) reported several cases of neurovisceral storage disease with vertical supranuclear gaze paresis, ataxia and other central nervous disorders. This disease is classified into Niemann-Pick disease type C because of the presence of foamy cells or sea-blue histiocytes in bone marrow, and the accumulation of sphingomyelin, cholesterol and other glycosphingolipids. In this paper, we reported a rare case of neurovisceral storage disease with severe horizontal supranuclear ophthalmoplegia and sea-blue histiocyte in bone marrow. The patient was a 9-year-old boy. He was hospitalized for unstable gait. The neurological examination revealed severe horizontal supranuclear ophthalmoplegia, moderate ataxia of four extremities and trunk, and mild dystonia of neck and four limbs on walking and standing. The ocular movement in the vertical direction was less impaired and his mentality was almost normal. The bone marrow aspiration showed a few sea-blue histiocytes. The activities of fibroblast lysosomal enzymes including sphingomyelinase were normal. The rectal biopsy revealed many foamy cells in mucous membrane and submucosa. The cell had PAS-positive and acid phosphatase-positive substances, which showed rose-red metachromasia with Feyrter's thionin method. But these abnormal cells were never stained by Sudan black B. These histochemical reactions were compatible with those of Neville's neurovisceral storage disease (Lake, 1983). Therefore we supposed the pathogenesis of this case was the same as that of Neville's cases. In this case, the horizontal supranuclear ophthalmoplegia was a unique symptom.

Spinocerebellar degeneration (SCD) is associated with other various degeneration of the nervous systems such as the optic tract, pyramidal pathway, extrapyramidal system, nuclei of the brain stem and autonomic nervous system as well as changes of heart. The clinical pattern, also have the great variability. We investigated the mode of progression of clinical symptoms and signs in 214 cases of SCD which were examined 2 times at intervals of about 10 years. 79 of 214 cases were reported to be died at the last examination. 135 alive cases included 3 with the Holmes type, 14 with late cortical cerebellar atrophy (LCCA) 10 with Menzel type, 18 with olive-ponto-cerebellar atrophy (OPCA), 33 with spinocerebellar form (SCF), 6 with Friedreich's ataxia, 18 with hereditary spastic paraparesis (HSP) and 33 with the other type. 79 dead cases included 0 with the Holmes type, 6 with LCCA, 5 with Menzel type, 32 with OPCA, 16 with SCF, 1 with Friedreich's ataxia, 4 with HSP and 15 with the other type. The disability of daily living in SCD revealed slower progression in the advanced stage than in the early stage. Every type of SCD had some different progression of disability each other. In the early stage, Friedreich's ataxia showed the highest progression of disability, but in the advanced stage, Holmes type and the OPCA did. Holmes type showed progression of ataxia without any remarkable change of other systems. LCCA showed increase of abnormality in the eye movements, pyramidal tract and autonomic nervous system in addition to the cerebellar system. OPCA involved multiple systems as ataxia worsening, but Menzel type had no remarkable changes of incidence in eye movement disorder.(ABSTRACT TRUNCATED AT 250 WORDS)