Correlation of magnetic resonance imaging findings and histopathology of lesion distribution of spinal cord sarcoidosis at post-mortem.
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Cadaver↗
Biomedical subjects
G Sobue
Publications and source records attributed to G Sobue.
Crow-Fukase syndrome.
Crow-Fukase syndrome is a unique multisystem disorder that is also known as POEMS syndrome (an acronym for polyneuropathy, organomegaly, endocrinopathy, the presence of M-protein and skin change). This syndrome is strongly associated with plasma cell dyscrasia. Circulating light chains of M component, almost invariably IgG lambda or IgA lambda, are found in 75% of patients. Neuropathologically, segmental demyelination, particularly in the proximal segment of the peripheral nerve trunk, is the primary process. Axonal degeneration and marked endoneurial edema are also characteristic. Focal excessive myelin outfolds with globular features corresponding to periodicity and paranodal enlargement of myelin are also highly characteristic of this syndrome. Vascular endothelial growth factor (VEGF) was found to be specifically and highly elevated in the serum of patients with this syndrome, suggesting a pathogenic role. M-protein, interleukin (IL)-1beta, IL-6 and tumor necrosis factor (TNF)-alpha are also considered to be involved in the pathogenesis. Treatment consists of radiation and surgical resection of the myeloma, chemotherapy, and a high dose of intravenous immunoglobulin (IVIg).
Humans↗
Course and distribution of facial corticobulbar tract fibres in the lower brain stem.
The course and distribution of the facial corticobulbar tract (CBT) was examined by correlating MRI of brain stem lesions with neurological symptoms and signs including central (C-FP) or peripheral facial paresis (P-FP) in 70 patients with localised infarction of the lower brain stem. C-FP occurred more often in patients with lesions of the lower pons or upper medulla of the ventromedial brain stem. Some patients with dorsolateral infarcts of the upper medulla to the lower pons showed C-FP, mostly on the lesion side. P-FP on the side of the lesion was also seen in patients with dorsolateral involvement of the lower pons. Patients with ventromedial infarction of the brain stem showed paresis of extremities contralateral to the lesion. Specific neurological symptoms and signs such as dysphagia, vertigo, nystagmus, Horner's syndrome, ipsilateral cerebellar ataxia, and contralateral superficial sensory impairment were seen in patients with dorsolateral infarcts of the brain stem. It is hypothesised that the facial CBT descends at the ventromedial lower pons, near the corticospinal tract, mainly to the level of the upper medulla, where the fibres then decussate and ascend in the dorsolateral medulla to synapse in the contralateral facial nucleus.
Adult↗
Coexisting vertical and horizontal one and a half syndromes.
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Cerebellum↗
An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).
OBJECTIVES AND METHODS: Seven families were studied with an axonal form of Charcot-Marie-Tooth disease (CMT) associated with mutations in the peripheral myelin protein zero (MPZ) gene-Thr124Met or Asp75Val. RESULTS: Patients with these mutations commonly showed relatively late onset sensorimotor neuropathy predominantly involving the lower limbs. Sensory impairment typically was marked, and distal muscle atrophy and weakness were also present in the legs. Adie's pupil and deafness were often present, and serum creatine kinase concentrations were often raised irrespective of which MPZ mutation was present. Relatively well preserved motor and sensory nerve conduction velocities contrasted with reduced or absent compound muscle action potentials and sensory nerve action potentials. Axonal change with marked axonal sprouting was seen in sural nerve specimens. CONCLUSION: The similar associated clinical findings suggest that patients with axonal CMT with an MPZ gene mutation share distinctive clinical features.
Adult↗
Clinical and pathophysiological features of amaurosis fugax in Japanese stroke patients.
OBJECTIVE: It has been emphasized that amaurosis fugax (AmF) is caused by thromboembolism due to atheromatous lesions of the extracranial carotid artery (EC-CA) in Caucasian populations. However, there have been few studies of AmF in Japan. We analyzed the clinical and pathophysiologic features of AmF in 43 Japanese AmF patients. SUBJECTS AND METHODS: Forty-three patients presented with AmF from a group of 2,056 Japanese patients with acute ischemic stroke. We investigated angiographic and transcranial Doppler findings, precipitating factors, medical treatment and prognosis, to elucidate the pathogenetic mechanism of AmF. RESULTS: Angiographic findings revealed an intracranial lesion in 22 patients (51%), extracranial lesion in 16 (37%), and no abnormality in 5 (12%). Blood flow in the ophthalmic artery (OA) examined by the transcranial Doppler ultrasonography (TCD) showed normal antegrade flow in 24 patients and reversed flow in 7. Precipitating factors for AmF were seen in 7 out of 43 patients. Regarding the pathogenesis of AmF, the micro-thromboembolism originated from the internal carotid artery (ICA) in 25 patients, the thromboembolism was via the external carotid artery (ECA) in 7, the hemodynamic retinal vascular insufficiency in 6 patients showed various atheromatous changes in the intracranial carotid artery (IC-CA) or EC-CA, and the cause was unknown in 5. CONCLUSION: In this series of patients, AmF was mainly caused by thromboembolism from IC-CA atheromatous lesions. Micro-thromboemboli from the ECA or hemodynamic retinal vascular insufficiency, although less frequent, should also be considered as possible etiologies for AmF.
Adolescent↗
[An autopsy case of bilateral carotid artery occlusion with repetitive epilepsy and brain atrophy in a senile patient].
A 67-year-old man was referred to us for tonic-clonic convulsions. A review of his history revealed that he had been hospitalized for loss of consciousness, hypotension, and suspected apoplexy at age 67. He had experienced prior tonic-clonic convulsions at age 72 and age 74. He had malaria and tuberculosis in his history but had been otherwise generally well. Physical examination was normal, and his blood pressure was 100/80 mmHg. Laboratory findings were normal except alcalinephosphatase (292 U/l) and gamma-glutamyl transpeptidase(60 U/l). Neurological examination showed alert consciousness, mild upper gaze palsy, slight right-side hemiparesis and left Babinski signs was present. Cranial magnetic resonance imaging showed no abnormality, but cerebral angiography revealed bilateral carotid artery occlusion. There were abundant leptomeningeal anastomoses, and the posterior communicating artery was supplied by the left vertebral artery. Electroencephalography showed a spike wave in the temporal lobe and rebuild-up phenomenon in the right hemisphere. Brain atrophy in the anterior and temporal lobes progressed, and the patient experienced gradual disorientation, delirium and hypobulia. He was eventually bedridden. He also demonstrated repetitive tonic-clonic convulsions. After one convulsion, he remained unconscious and died of pneumonia. Autopsy revealed thickening of the intima and internal elastic lamina in the occluded internal carotid artery. The anterior and middle cerebral arteries showed the same pathological changes. Multiple small infarctions restricted to grey matter were present in the cerebral cortex and may have caused the progressive brain atrophy. There was no myelin pallor in the white matter of the cerebrum. Atherosclerotic changes, senile plaque, and neurofibrillary tangles were seen but were within normal limits. These pathological findings were strongly suggestive of moyamoya disease.
Aged↗
[Two families of Charcot-Marie-Tooth disease with Adie's pupil, axonal neuropahy and the Thr124Met mutation in the peripheral myelin protein zero gene].
We reported two families of Charcot-Marie-Tooth disease (CMT) with Thr124Met mutation in the peripheral myelin protein zero (MPZ). The clinical features of the proband patients of both families showed Adie's pupil, severe sensory dominant neuropathy in lower extremities, and axonal changes in sural nerve biopsies and nerve conduction studies. Muscle atrophy and weakness was mild in the lower legs, while sensory impairment was marked. The proband patient of family 1 had four symptomatic siblings and one of them showed Adie's pupil. The elderly daughter of the proband of family 2 showed Adie's pupil and younger daughter showed photophobia. The biopsied sural nerves of both proband patients revealed prominent axonal sprouting, and sub-perineurial edema and mild fascicular enlargement. Segmental demyelination was not frequent in teased fiber assessment. The present two family cases strongly suggest that this MPZ gene mutation (Thr124Met) could be present among the patients with CMT type 2, axonal form. Furthermore, the patients showing sensory neuropathy and Adie's pupil may need to be reexamined with this mutation. It is also necessary to reassess genotype-phenotype correlation in CMT patients particularly in reference to type 1 and type 2.
Adie Syndrome↗
[CNS cryptococcosis with idiopathic CD4+ T lymphocytopenia].
A 33-year-old Japanese man, with a history of recurrent skin cryptococcosis, was admitted complaining of fever and severe headache for 3 weeks. He had no known risk factors for human immunodeficiency virus (HIV) infection. Cerebrospinal fluid examination revealed an elevated opening pressure of 32 cm H2O, cell counts of 884/mm3, a total protein value of 184 mg/dl, a glucose level of 16 mg/dl, and demonstrated a positive India ink stain for fungus. Cultures grew Cryptococcus neoformans. Hematological studies showed a persistently low CD4+ cell count (30/mm3) and a low CD4/CD8 ratio of 0.1. He has been repeatedly seronegative (ELISA and Western blot) for HIV-1 and HIV-2. He responded to fluconazole, and was given itraconazole as secondary prophylaxis because of persistent low CD4 counts. To our knowledge this is the first patient with idiopathic CD4+ T lymphocytopenia associated with CNS cryptococcosis in Japan. CD4 counts should be part of the initial work up for patients with CNS cryptococcosis.
Adult↗
[Familial parkinsonism with the abnormalities in putamen on MRI].
A putative new type of familial parkinsonism with peculiar putaminal changes in MRI was reported. The pedigree was cousin marriage, and three out of four siblings developed parkinsonism in their 2nd or 3rd decade. Their clinical signs were saccadic eye movement, dysarthria, rigidity, bradykinesia and postural instability. These symptoms partially responded to levodopa therapy and showed mild progression. There was no diurnal fluctuation of the symptoms or alleviation after sleep. Lack of Parkin gene mutation and normal beta-galactosidase activities was observed. The cranial MRI study disclosed putaminal increased signal intensities in T2-weighted and proton density images. The severity of these finding correlated with the severity of the symptoms. Familial parkinsonism with MRI findings similar to this pedigree has not been reported in the literature. It is suggested that the present pedigree could be classified as a new subgroup of familial parkinsonism.
Female↗
[A one-month combined use of selective adrenergic beta 1- and alpha 1-agonists for postprandial hypotension in patients with autonomic failure].
In 1993, we reported the pathophysiology of postprandial hypotension (PPH) in patients with sympathetic dysfunction: a fall of BP resulted from both excess systemic vasodilation and lack of compensatory increase of cardiac output and vascular resistance in the leg arteries. In that article, we showed the beneficial results of combined oral administration of denopamine (a selective beta 1-agonist) and midodrine HCI (a selective alpha 1-agonist) on this condition. The present study was undertaken to further evaluate the efficacy and safety of this agonist combination in autonomic failure (AF) patients with PPH. This was a one-month trial. A total of 13 chronic AF patients received orally 30 mg of denopamine and 12 mg of midodrine three times a day, 30 minutes before each meal. We measured brachial BP every 10 min in the daytime and every 15 min in the nighttime, using a 24-h indirect BP recorder. The combined use of these agonists produced a significant improvement in PPH and maintained a near-normal BP level. In conclusion, the combined administration of denopamine and midodrine three times a day is a well-tolerated and efficacious treatment for PPH.
Adrenergic alpha-Agonists↗
[X-Linked Charcot-Marie-Tooth disease with a new mutation (Thr191Ala) in the connexin32].
We report a 59-year-old man with X-linked Charcot-Marie-Tooth (CMT) disease and a new point mutation in the connexin32 gene. The patient first noticed mild gait disturbance five years previously. On admission, he exhibited muscle atrophy and weakness in the distal part of both legs, mild muscle atrophy of both hands without weakness, and a minimal reduction of touch sensation in the right dorsal foot. Nerve conduction velocity of the peripheral nerves was diffusely reduced. Electromyography exhibited high-amplitude, long-duration, polyphasic motor unit potentials in the muscles of the extremities. Fibrillation potential and positive sharp wave were present in the affected muscles. Cerebrospinal fluid protein was slightly elevated. The polyneuropathy did not respond to high-dose corticosteroid treatment, and showed very slow progression. His parents were not consanguineous. His father and two sons were healthy, but similar illness (more severe) was suspected in his younger brother. Gene analysis (Southern hybridization) did not reveal any duplication or deletion in the CMT 1 A-REP region. However, a novel mutation (Thr191Ala) was detected in the connexin32. Although more than 160 mutations in the connexin 32 gene have been identified worldwide, approximately ten mutations have so far been reported in Japan. In comparison with X-linked CMT patients with other connexin32 mutations, the present case was characterized by late onset and mild neurological manifestation. Gene analysis provides a useful tool for diagnosing cases with slowly progressive, motor dominant polyneuropathy of unknown origin.
Charcot-Marie-Tooth Disease↗
[Effects of tandospirone citrate on frozen gait in patients with early stage of progressive supranuclear palsy, investigated by walk-induced activation single photon emission computed tomography method].
We reported a 64-year-old woman in the early stage of progressive supranuclear palsy presenting as pure akinesia syndrome who showed marked improvement with tandospirone citrate. She revealed bradykinesia, severe frozen gait and disturbance of postural reflex without rigidity or tremor. Treatment with L-dopa and L-threo DOPS was not effective, but tandospirone citrate at a daily dosage of 30 mg significantly lessened the severity of frozen gait. Activation single photon emission computed tomography study with 99mTc-ethyl cysteinate dimer during gait revealed a significant increase in brain activity in the right cingulate cortex after tandospirone citrate treatment. The effect lasted ten months until neck rigidity and ventricular supranuclear palsy were evident.
Brain↗
[Triplet repeat disease, with particular emphasis of spinal and bulbar muscular atrophy (SBMA)].
Spinal and bulbar muscular atrophy (SBMA) is an X-linked neurodegenerative disease caused by the expansion of a CAG repeat in the first exon of the androgen receptor (AR) gene. To date, eight CAG-repeat diseases have been identified, including spinal and bulbar muscular atrophy (SBMA). Huntington's disease (HD), dentatorubralpallidoluysian atrophy (DRPLA) and five spinocerebellar ataxias (SCAs 1, 2, 3, 6, 7). These disorders likely share a common pathogenesis caused by the gain of a toxic function associated with the expanded polyglutamine tract. Several mechanisms have been postulated as a pathogenic process for neurodegeneration caused by the expanded polyglutamine tract. Processing of the polyglutamine containing proteins by proteases liberate truncated polyglutamine tract, which may cause neurodegeneration as demonstrated in transgenic mice and transfected cells. In addition to cellular toxicity, truncated and expanded polyglutamine tracts have been shown to form intranuclear inclusions (NI). The NIs formed by the disease protein are a common pathological feature of these diseases. In SBMA, NIs containing AR protein have been observed in regions of SBMA central nervous system susceptible to degenerations. Transcriptional factors or their cofactors, such as cerb or creb-binding protein (CBP) sequestrated in the NI may alter the major intracellular transcriptional signal transduction, and ultimately may result in neuronal degeneration. The ubiquitin-proteasome pathway may also contribute to the pathogenesis of CAG-repeat diseases. As for the therapeutic strategies, many possibilities have been demonstrated. Overexpression of Hsp70 and Hsp40 chaperones act together to protect a cultured neuronal cell model of SBMA from a cellular toxicity of expanded polyglutamine tract.
Animals↗
[Therapy of peripheral nerve disturbances--current progress].
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Humans↗
Nerve growth factor prevention of aged-rat sympathetic neuron injury by cisplatin, vincristine and taxol--in vitro explant study.
We examined the preventive effects of nerve growth factor (NGF) against neurotoxicity induced in aged rats by anticancer drugs such as cisplatin, vincristine and taxol using a superior cervical ganglion explant culture system. The inhibition of neurite outgrowth by cisplatin, vincristine and taxol was markedly prevented by co-treatment with NGF. The neurite and nerve cell populations were well preserved in vincristine and taxol, whereas cisplatin reduced these populations as compared with control even when treated with NGF. These results indicate that, just as in young adult rats, NGF prevents toxic sympathetic nerve injury induced by vincristine and taxol even in aged rats, but does not protect against cisplatin-induced nerve cell injury.
Aging↗
Auditory brainstem responses in patients with autonomic failure with Parkinson's disease and multiple system atrophy.
Auditory brainstem responses (ABRs) were examined in six patients with autonomic failure with Parkinson's disease (AF with PD) and 10 patients with autonomic failure with multiple system atrophy (AF with MSA), all of which showed marked parkinsonian features as a principal sign. We designated the central abnormalities of ABRs as prolongation of latencies (wave III or V) and interpeak latencies (IPLs; I-III, I-V, and III-V IPL) or decreased amplitude ratios of wave III or V to those of wave I (less than 1.0). None of the patients with AF with PD showed abnormalities in ABRs. In contrast, in those with AF with MSA, the peak latencies or IPLs were prolonged in two of the 10 patients, and the amplitude ratios of wave III or V to those of wave I were decreased in other two of these patients. Moreover, both prolongation of latencies and a decreased ratio were observed in other one. Overall, five of the 10 patients with AF with MSA showed central abnormalities in ABRs. It is clinically difficult to differentiate AF with PD from AF with MSA, particularly when no cerebellar signs are apparent in AF with MSA patients. When central abnormalities of ABRs are observed in AF patients, AF with MSA should be suspected rather than AF with PD. In conclusion, ABRs provide useful information for the differential diagnosis of AF with PD and AF with MSA.
Aged↗
Parieto-occipital glucose hypometabolism in Parkinson's disease with autonomic failure.
To investigate the characteristics of regional cerebral metabolism in a subgroup of patients with Parkinson's disease and autonomic failure, we studied seven patients with Parkinson's disease with autonomic failure (PA group), 11 patients with Parkinson's disease without apparent autonomic failure (PD group), and nine normal controls using fluoro-deoxyglucose positron emission tomography (FDG-PET). To determine differences in metabolic distribution among these groups, regional relative glucose metabolic rates (RGMR), which were normalized with cerebellar values, were calculated and age-adjusted covariance analyses were done. When compared with that of controls. RGMR in the cerebral cortex of the PA group was markedly reduced in the occipital cortex (P<0.001), inferior parietal cortex (P<0.005) and superior parietal cortex (P<0.005), but without a decrease in the sensory motor and medial temporal cortices, putamen and thalamus. In contrast, the PD group did not show significant focal hypometabolic distribution. Our findings raise the possibility that Parkinson's disease with autonomic failure may overlap with the features of dementia with Lewy bodies.
Aged↗