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Biomedical subjects

G Sobue

Publications and source records attributed to G Sobue.

At least 235 records · Page 13Linked to original sources
PubMed1995

[Cerebellar infarction in the territory of the superior cerebellar artery, presenting a predominant cerebellar symptom--with special reference to its pathophysiology].

Clinical features of cerebellar infarction in the territory of the superior cerebellar artery (SCA) were investigated in six male patients, ranging in age from 50 to 69 years. In all patients, there were MR images of infarction located in the area supplied by the SCA. The lesion was on the left-side in 2, right-side in 3 and bilateral (recurrent) in 1 patient. The onset of disease occurred with nausea, vomiting and floating sensation, with no overt brain stem signs other than symptoms of unilateral cerebellar ataxia and dysarthria. Five of the 6 patients had heart disease and cerebral angiography without definite evidence of SCA occlusion, strongly suggesting occlusion of the artery at its periphery due to cardiogenic embolism. A comparison of these 6 patients with those reported previously in Japan suggests that patients with SCA occlusion may be divided into two distinct subgroups: one manifesting diffuse brain stem signs in addition to cerebellar signs, and the other showing cerebellar signs as the only neurologic manifestation. In the former group, comprising the vast majority of patients, SCA occlusion occurred at the origin of the vessel due to a thrombus under a state of hypertension, diabetes mellitus or malignancy, producing signs of brain stem involvement, such as dissociating sensory disturbance and Horner's sign. While in the latter group, which included these 6 patients, paucity of brain stem signs, absence of definite cerebral angiographic evidence of SCA occlusion, and the presence of heart disease were distinguishing clinical features. Cardiogenic cerebral embolism was probably the underlying pathology in many of the cases and the functional prognosis was favorable.

Aged↗
PubMed1995

[Familial amyloidotic polyneuropathy (FAP type I) with late-onset; siblings showing heterogeneity in age of onset].

A 66-year-old man with late-onset FAP type I with Val30-->Met mutation in transthyretin was described. The age of clinical onset was 62 years old. The somatic motor and sensory involvement predominantly distributing in the distal part of the extremities preceded the manifestation of autonomic symptoms. He was diagnosed as having somatic motor and sensory neuropathy. However, 4 years after the onset, autonomic symptoms such as orthostatic hypotension, alternating constipation and diarrhea developed. Sural nerve biopsy and DNA study established the diagnosis of FAP type I. A 77-year-old brother of this patient, also had the type I mutation of transthyretin, but did not show any neurological symptoms or electrophysiological abnormalities, indicating significant discordance to the onset age of clinical phenotypes in this family. As suggested in an experiment on transgenic mice with FAP gene, factors other than FAP gene, possibly an environmental factor, may have been related with the clinical onset of FAP. Both siblings in this family, had FAP type I gene mutations, yet showed a significant discordance to the phenotypic manifestations of FAP. This supports the view that multifactorial background may well influence the clinical onset and progression of this disease.

Age of Onset↗
PubMed1995

[Disturbance of hypothalamic-pituitary hormone secretion in familial chorea-acanthocytosis].

An endocrinological study was performed dopaminergic regulation of the hypothalamic-pituitary axis of 3 patients with familial chorea-acanthocytosis (females, 38 to 47 years of age). All 3 patients exhibited low basal levels of triiodo-thyronine (T3), and 2 patients had a slightly elevated baseline plasma prolactin (PRL) level. The patients had a delayed plasma thyroid stimulating hormone (TSH) response and plasma PRL excessive response to thyrotropin releasing hormone (TRH), and a low plasma growth hormone releasing hormone (GRF) response to L-dopa. These TSH, PRL and GRF responses represent a secretion pattern due to a hypothalamic disorder, suggesting impaired regulation of hormone secretion by the dopaminergic system, primarily in the hypothalamus. In addition, an increased growth hormone (GH) response secretion following TRH (paradoxical response) was observed in 2 patients, suggesting that the pituitary was also involved. An oral glucose tolerance test (75g-OGTT) revealed a diabetic pattern in all 3 patients, indicating frequent association with impaired glucose tolerance.

Acanthocytes↗
PubMed1995

[Two siblings of familial amyotrophic lateral sclerosis with multisystemic degeneration characterized by mild involvement of the middle root zone of the posterior column, Clarke's nuclei and spinocerebellar tract].

The aim of this study is to clarify the clinicopathological characteristics of the multisystem degeneration seen in two male siblings with familial amyotrophic lateral sclerosis (FALS). A similar neurological disorder affected their elder sister and paternal uncle, but not their parents. The older brother (case 1) developed muscular weakness at 50 years of age and the younger brother (case 2), at 42 years of age. The duration of illness was 19 months in case 1 and 31 months in case 2. The clinical picture was the common (suspended) form in case 1 and the pseudopolyneuritic form in case 2. Pyramidal tract sign was obscure in both cases and cerebellar sign, sensory disturbance, sphincter disturbance and oculomotor palsy were not observed in either case. Neuropathological examination revealed similar findings in the two cases: 1) marked loss of lower motor neurons in the spinal anterior horn and motor nuclei of the lower brain stem in both cases, with neuronal loss of Onuf's nuclei in case 2; 2) very mild involvement in Clarke's nuclei, the dorsal and ventral spinocerebellar tracts and the middle root zone of the posterior column; 3) relatively well preserved Betz cells in the upper motor cortex with the appearance of a few macrophages, and mild changes in the pyramidal tract of the spinal cord; and 4) mild degenerative changes in the pallidoluysian system and the dentatorubral system. The most characteristic pathological findings common to both cases were the extremely mild involvement of the middle root zone of the posterior column, Clarke's nuclei and spinocerebellar tracts. The pattern of lower motor neuron system degeneration paralleled the development of clinical features. Genetic studies demonstrated no mutations in exons 1, 2 and 4 of Cu/Zn-binding superoxide dismutase gene. We emphasized the existence of mild involvement of middle root zone of posterior column, Clarke's nuclei and spinocerebellar tract in FALS with multisystemic degeneration.

Adult↗
PubMed1995

[Sensory ataxic neuropathy associated with Sjögren's syndrome].

One tenth of patients with Sjögren's syndrome (SS) is associated with peripheral neuropathy. Trigeminal neuropathy, mononeuropathy multiplex, sensory neuropathy, distal sensory neuropathy, ataxic sensory-autonomic neuropathy have been described as the neuropathy associated with SS. However, some of them secondary occur associated with the vasculopathy due to rheumatoid arthritis, systemic lupus erythematodes etc combined with SS. We demonstrated the clinico-patho-physiological features and spinal MRI findings of patients with primary SS in whom the sensory ataxia and autonomic dysfunctions were the predominant symptoms. The underlying pathology was lymphocytic (T cells) infiltration to the dorsal root ganglia with sensory neuronal degeneration. These findings have identified as association between SS and sensory ataxic neuropathy.

Aged↗
PubMed1995

X-linked recessive bulbospinal neuronopathy (SBMA).

X-linked recessive bulbospinal neuronopathy (SBMA) is an adult onset motor neuronopathy with androgen receptor (AR) gene mutation of expanded CAG repeat size in the first exon. The size of CAG repeats in the AR gene is one of the determinant factors of the severity and progression rate of SBMA phenotypes, but the meiotic and somatic instability of CAG repeats is far more stable as compared with other diseases caused by trinucleotide repeat expansions such as HD, DRPLA, MJD and SCA1. Several evidences suggest that aberrant transcriptional activity of androgen through mutant AR is related to the pathogenic mechanism of this disease.

Adult↗
PubMed1995

[A clinicopathological study of the Guillain-Barré syndrome--fifteen Japanese postmortem cases].

The postmortem findings of the ventral roots and ventral horn cells of 15 Japanese cases of Guillain-Barré syndrome are reported. In 5 cases there was predominant axonal involvement with severe axon loss in the lumber ventral root. Eight cases showed predominantly segmental demyelination, and two cases were the intermediate form with both segmental and axonal changes. Macrophage invasion in the ventral roots predominantly occurred in the cases with axonal involvement. Large-sized motor neuron loss and reactive astrogliosis were also seen in the cases with axonal degeneration. These findings indicate that approximately 30% of Japanese autopsied cases were "axonal form", the incidence of which was higher than that reported in European and North American countries, but was lower than that in Chinese endemic acute motor axonal neuropathy.

Adult↗
PubMed1995

[Phenotypic heterogeneity in Japanese Charcot-Marie-Tooth disease type 1A patients with PMP-22 gene duplication].

We studied phenotypic heterogeneity in 18 Japanese patients with Charcot-Marie-Tooth disease type 1A (CMT1A) with PMP-22 gene duplication, together with heterogeneity of duplication size. In order to detect the duplication of PMP-22 gene region, the PMP-22 cDNA and a polymorphic marker VAW409R3 were used as probes for Southern blot analysis. As the clinical phenotypes, we assessed the degree of foot deformity, muscular weakness and atrophy, tendon reflexes, sensory impairment and electrophysiologic and sural nerve biopsy findings. Although the degree of muscular weakness and atrophy was slightly more severe in the advanced age, there was a patient with calf hypertrophy in the older age or a patient with marked muscular atrophy of the leg in the younger age. The incidence of foot deformities and sensory impairment was high and these phenotypes did not relate to aging. Diminished or absent tendon reflexes and slowing of motor conduction velocities were commonly seen, but the motor conduction velocity varied greatly among the patients. The clinical phenotypes were extensively variable among the CMT 1A patients with the same gene mutation of PMP-22 gene duplication, suggesting that there is a factor other than PMP-22 gene duplication, which influences phenotypic manifestation in CMT 1A.

Adult↗
PubMed1995

[Relations between autonomic dysfunction and skin sympathetic nerve activity in Guillain-Barré syndrome: a microneurographical assessment].

We investigated the skin sympathetic nerve activity (SSNA) in 4 patients with Guillain-Barré syndrome (CBS) using microneurography. All patients showed transient hypertension, tachycardia and palmoplantar hyperhidrosis in the acute phase of illness, but these symptoms disappeared in the chronic phase. Microelectrode recordings of SSNA performed at the median nerve in the acute phase when hypertension, tachycardia and palmoplantar hyperhidrosis were present and then in the recovery phase. In the acute phase, the level of SSNA was significantly higher than the control levels obtained from 16 healthy subjects, while in the chronic recovery phase the SSNA showed no significant difference from that of the control. The correlation between the SSNA and corresponding changes in the sweat rate and skin blood flow was kept constant both in the acute phase and chronic phase. These findings suggest that the sympathetic nerve dysfunction observed in the acute phase of GBS is partly the consequence of hyperactivity of the skin sympathetic nerve.

Adolescent↗
PubMed1994

Androgen receptor mRNA with increased size of tandem CAG repeat is widely expressed in the neural and nonneural tissues of X-linked recessive bulbospinal neuronopathy.

We detected androgen receptor (AR) mRNA expression in various tissues in the patients with X-BSNP and controls using reverse transcription polymerase chain reaction (RT-PCR) and Northern blot analysis. The AR mRNAs were expressed in a wide variety of tissues including the testis, scrotal skin, liver, skeletal and cardiac muscles, sciatic nerve, sympathetic and dorsal root ganglia and spinal cord, and were all abnormally elongated in the size of the CAG repeat in the patients. The mutant AR gene with increased size of tandem CAG repeat was directly transcribed in various tissues, and would be related to a wide spectrum of phenotypic manifestations in X-BSNP.

Base Sequence↗
PubMed1994

cAMP-dependent differential regulation of extracellular matrix (ECM) gene expression in cultured rat Schwann cells.

cAMP-dependent regulation of the steady-state mRNA levels for the ECM components, laminin A, B1 and B2 chains, collagen types I, III and IV were examined by Northern blot analysis in cultured rat Schwann cells. ECM mRNAs of laminin B1 chain and collagen types I and IV were expressed at high levels in the control Schwann cells, while laminin B2 chain and collagen type III mRNA levels were low, and laminin A chain mRNA was not detectable. When Schwann cells were treated with forskolin or cAMP derivatives, the gene expression for the ECM molecules constituting the Schwann cell basement membrane, laminin B1 and B2 chains, and collagen type IV, was enhanced in time- and dose-dependent manners for exogenously administered forskolin or cAMP derivatives, while the mRNA levels for the ECM molecules, which are not the major components of the basement membrane, fibrillary collagen types I and III were significantly suppressed. This cAMP-dependent differential regulation of Schwann cell ECM gene expression may be related to the role of each ECM molecule in the peripheral nerve development and regeneration.

Adrenergic beta-Agonists↗
PubMed1994

Phenotypic heterogeneity of an adult form of adrenoleukodystrophy in monozygotic twins.

We describe genetically proven monozygotic twins with the adult form of adrenoleukodystrophy with significant phenotypic heterogeneity. Myeloneuropathy was common to both patients, but cognitive impairment and affective symptoms with extensive demyelination in the brain were prominent in the older twin, while adrenal insufficiency was predominant in the younger twin. The younger twin, however, exhibited affective symptoms similar to those displayed by his elder twin 10 years later. These findings suggest that nongenetic factors are important in determining the phenotypic variation of adrenoleukodystrophy gene.

Adrenoleukodystrophy↗
PubMed1994

Age-related changes of the myelinated fibers in the human corticospinal tract: a quantitative analysis.

A quantitative analysis was made of the myelinated fibers in the lateral corticospinal tract (LCST) at the levels of the 6th cervical, 7th thoracic and 4th lumbar spinal segments in 20 patients between 19 and 90 years old, and who died of non-neurological diseases. The diameter frequency histograms of myelinated fibers of LCST showed a bimodal pattern with a sharp peak of the small myelinated fibers and broad slope of the large myelinated fibers. The ratio of small fiber to large fiber densities was significantly higher in the 6th cervical (P < 0.05) and 4th lumbar segments (P < 0.01) than in the 7th thoracic segments. The density of small myelinated fibers was significantly lowered with advancing age (P < 0.05-0.001), while that of large myelinated fibers was not significantly decreased in the aged patients, although it showed a slight age-dependent declining tendency. Age-dependent decline of small fiber density was more prominent in the cervical and lumbar segments. Retraction of the axon-collaterals from large-diameter myelinated fibers, which are abundant in the cervical and lumbar segments, may contribute to the age-related diminution of the small myelinated fibers in the LCST.

Adult↗
PubMed1994

Disease-specific patterns of neuronal loss in the spinal ventral horn in amyotrophic lateral sclerosis, multiple system atrophy and X-linked recessive bulbospinal neuronopathy, with special reference to the loss of small neurons in the intermediate zone.

The ventral horn cells of the fourth lumbar segment were morphometrically analysed in six cases of amyotrophic lateral sclerosis (ALS; there common forms and three pseudopolyneuritic forms), six of multiple system atrophy (MSA) with autonomic failure, four of X-linked recessive bulbospinal neuronopathy (X-BSNP), and seven age-matched autopsy cases of non-neurological disorders. In the common form of ALS, large and medium-sized neurons of the medial and lateral nuclei were markedly lost; small neurons in the intermediate zone were slightly diminished but fairly well preserved. In the pseudopolyneuritic form of ALS, marked loss was present in the large and medium-sized neurons, and in the small neurons located in the intermediate zone as well. In the MSA, in contrast to ALS, there was a marked reduction in small neurons in the intermediate zone, and large and medium-sized neurons of the medial and lateral nuclei tended to be preserved. In X-BSNP, large and medium-sized neurons were almost completely lost and small neurons were also markedly depopulated. These findings indicated that the pattern of neuron loss in the ventral horn is distinct among these diseases depending on size, location and function of the ventral horn cell population. These disease-specific patterns of neuron loss suggest a difference in the process of neuronal degeneration of ventral horn cells among the disease examined.

Adult↗
PubMed1994

Modulatory effects of calcitonin gene-related peptide and substance P on human cholinergic sweat secretion.

Immunoreactivity to various peptides has been demonstrated in nerve terminals around the sweat glands, suggesting a regulatory function for these peptides on sweating. The present study evaluated the calcitonin-gene related peptide and substance P related regulation of sweating in man. Both calcitonin-gene related peptide and substance P, when administered alone, failed to cause sweat secretion, whereas sweating induced by methacholine chloride alone was four times greater when administered with calcitonin-gene related peptide and suppressed by 70% when administered with substance P. The degree of calcitonin-gene related peptide dependent augmentation and substance P dependent suppression of the methacholine chloride induced sweating was dependent on the concentration of calcitonin-gene related peptide and substance P. These findings suggest that calcitonin-gene related peptide enhances cholinergic sweating and substance P inhibits it.

Adult↗
PubMed1994

Familial amyloidotic polyneuropathy with late-onset and well-preserved autonomic function: a Japanese kindred with novel mutant transthyretin (Ala97 to Gly).

We report the characteristics of one patient and two asymptomatic carriers from a Japanese family with familial amyloidotic polyneuropathy (FAP). The clinical features were somatic sensory and motor neuropathy with well-preserved autonomic function and late onset with slow insidious progression. These symptoms and signs are different from those of type 1 FAP. There were massive amyloid deposits with transthyretin (TTR) in the myocardium and the sural nerve. DNA sequencing of the TTR gene and amino acid sequence analysis of serum TTR revealed a new mutation in which Gly97 was substituted for Ala. We suggest that patients with somatic sensory and motor neuropathy of unknown origin without apparent autonomic dysfunction should be further studied for TTR mutation.

Age of Onset↗
PubMed1994

Aberrant androgen action and increased size of tandem CAG repeat in androgen receptor gene in X-linked recessive bulbospinal neuronopathy.

Plasma levels of testosterone, luteinizing hormone (LH) and follicle-stimulating hormone (FSH) after 3 or 6 days of administration of the synthetic androgenic hormone fluoxymesterone (10 mg/day) were measured in 26 patients with X-linked recessive bulbospinal neuronopathy (X-BSNP) and 22 age-matched male controls. The testosterone, LH and FSH levels in the controls were markedly suppressed after administration, but in the patients with X-BSNP, they were suppressed significantly less. The level of suppression varied considerably with the patients, and those of plasma testosterone and FSH were significantly correlated with the number of CAG repeats in the androgen receptor gene. These findings suggest that the androgen action was aberrantly transduced in the target organs in the patients with X-BSNP and which is related to the elongated CAG repeat in the androgen receptor gene.

Adult↗