[Characteristic, locational and etiological differences in peripheral neuropathies].
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Axons↗
Biomedical subjects
G Sobue
Publications and source records attributed to G Sobue.
Severity of X-linked recessive bulbospinal neuronopathy correlates with size of the tandem CAG repeat in androgen receptor gene.
The genetic mutation of X-linked recessive bulbospinal neuronopathy is amplification of a polymorphic tandem CAG repeat in the androgen receptor gene. We studied this CAG repeat in 26 Japanese patients from 21 families with X-linked recessive bulbospinal neuronopathy. The number of CAG repeats was significantly correlated with the age at onset of limb muscular weakness (r = -0.596, p < 0.001) and age-adjusted scored disability (r = 0.446, p < 0.03). The length of the CAG repeat therefore seems to be a determinant factor of clinical severity.
Adult↗
Phosphorylated high molecular weight neurofilament protein in the peripheral motor, sensory and sympathetic neuronal perikarya: system-dependent normal variations and changes in amyotrophic lateral sclerosis and multiple system atrophy.
Using monoclonal antibody (Ta-51) that specifically binds phosphorylated high molecular weight neurofilament (pNFH) proteins, we investigated the occurrence of perikaryal pNFH in the spinal ventral horn motoneurons, intermediolateral column (ILC) neurons, sympathetic ganglion neurons and dorsal root ganglion (DRG) neurons obtained from patients with amyotrophic lateral sclerosis (ALS) and multiple system atrophy (MSA) and from control cases. In the controls, a system-dependent variation in perikaryal Ta-51 immunoreactivity was observed. Very few ventral horn cells and ILC neurons were stained with Ta-51, while large population of DRG neurons and sympathetic neurons were Ta-51 positive. The incidence of perikaryal immunoreactivity in the ventral horn cells was significantly increased in ALS and MSA. Some ILC neurons in ALS were Ta-51 positive and their incidence was significantly higher than that of the controls. These data suggest that both ILC neurons and ventral horn cells are affected with respect to pNFH metabolism in ALS and MSA. No significant difference was, however, detected in the Ta-51 immunoreactivity of both DRG and sympathetic ganglion neurons in ALS and MSA as compared with the controls.
Adult↗
Extensive demyelinating changes in the peripheral nerves of Crow-Fukase syndrome: a pathological study of one autopsied case.
Pathological changes of the peripheral nervous system in one autopsied case of Crow-Fukase syndrome (POEMS syndrome) was systemically examined. Distally accentuated myelinated axon loss was observed in the peripheral nerve trunks, ventral and dorsal spinal roots, but was not observed in the fasciculus gracilis. Segmental demyelination and remyelination associated with focal excessive myelin outfolds were the most characteristic features, the distribution of which was more prominent in the proximal nerve trunks and the spinal nerve roots. Endoneurial edema was present, and focal perivascular T lymphocyte accumulation was occasionally observed in the spinal nerve roots and proximal nerve trunks. Neurons in the sympathetic ganglia, dorsal root ganglia and ventral horns were well preserved.
Aged↗
Somatic motor efferents in multiple system atrophy with autonomic failure: a clinico-pathological study.
The myelinated fibers in the corticospinal tracts, ventral spinal roots, and the neurons in the ventral spinal horns were quantitatively examined in 8 autopsied cases of multiple system atrophy associated with autonomic failure. In these structures consisting of the somatic motor efferents, the main pathological feature was the size dependent-involvement of predominantly small-sized fibers and neurons. The small myelinated fibers were significantly depopulated, while the large myelinated fibers were well populated in the corticospinal tract. Neurons in the ventral horns were also involved, but those with a small diameter and located in the intermediate zone (Rexed's lamina VII, VIII) were markedly diminished. In the ventral spinal roots, in the fourth lumbar segments containing essentially no autonomic efferents, small myelinated fibers were also preferentially involved. These pathological changes in the small-sized fiber and neuron loss were examined in relation to the somatic and autonomic motor symptoms, particularly of pyramidal signs.
Aged↗
Central motor and sensory conduction in X-linked recessive bulbospinal neuronopathy.
Central conduction was studied in 12 patients with X-linked recessive bulbospinal neuronopathy (XBSN) using percutaneous electrical cortical, cervical and lumbar stimulation and somatosensory evoked potentials (SEPs). The central motor conduction time from the motor cortex to the cervical and lumbar segments of the spinal cord was normal in XBSN. SEPs, however, were abnormal or central sensory conduction time was prolonged in patients with XBSN. These results are consistent with the clinicopathological findings of XBSN in which the primary sensory neurons are involved as well as the lower motor neurons in the CNS, whereas the upper motor neurons are well preserved.
Adult↗
Hyperparathyroidism associated with parkinsonism.
A 70-year-old woman with hyperparathyroidism associated with parkinsonism is reported. Her primary initial symptom was parkinsonism, but it was levodopa-resistant. Chemical and hormonal findings revealed that she had hyperparathyroidism. The symptoms were relieved after the surgical removal of a parathyroid adenoma. Although this type of case has been reported only rarely, it suggests that hypercalcemia might be an aggravating factor in levodopa-resistant parkinsonism.
Adenoma↗
[The corticospinal tract of amyotrophic lateral sclerosis--a morphometric analysis of the myelinated fibers].
The myelinated fibers in the lateral corticospinal tract at the C6, T7, L4 levels in amyotrophic lateral sclerosis (ALS) and control cases were morphometrically examined. ALS cases consisted of 6 males and 2 females with ages ranging between 48 and 85 years, and were all the common or bulbar form in clinical manifestation. As for controls, 10 cases who died of non-neurological diseases, with age ranging 36 to 90 years were served. The population and the diameter profile of the myelinated fibers in the corticospinal tract of the C6, T7, L4 levels were measured by the method previously described and expressed as number per mm2. In control subjects, fiber-size histograms of myelinated fibers showed a bimodal pattern with a sharp peak of small fibers (less than 7.28 microns) and a broad peak of large fibers (greater than or equal to 7.28 microns) in all the spinal levels. In ALS cases, large myelinated fibers were predominantly diminished in number, a small myelinated fibers were also decreased in some cases. The degree of fiber loss was extremely variable among cases; well populated in large fibers in some cases. As for the rostral caudal distribution of myelinated fiber loss, a caudally-accentuated fiber loss particularly in large fiber was seen in some of the cases. The topographical distribution of fiber loss in the horizontal plane of the corticospinal tract in ALS did not show a distinctive pattern.
Aged↗
[Involvement of the ventral horn cells in Guillain-Barré syndrome and chronic inflammatory demyelinating polyradiculoneuritis].
The lumbar ventral horn cells and myelinated fibers in the ventral spinal roots of Guillain-Barré syndrome (GBS) and chronic inflammatory demyelinating polyradiculoneuritis (CIDP) were morphometrically analyzed. In all six cases, central chromatolytic changes in the ventral horn cells were commonly observed. In addition, two out of four GBS cases and one of two CIDP cases showed a significant reduction in the ventral horn cell population, particularly in neurons with a large diameter. The cases with significant motoneuron loss also showed a remarkable reduction in the number of myelinated fibers in the ventral spinal roots, and severe axonal degeneration was observed in cases in acute phase. Astrogliosis of the ventral horn was also seen in some cases. The present study suggested that motoneuron loss in the primary demyelinating diseases like GBS and CIDP is the consequence of the axonal pathology of the motoneuron axons. These observations are helpful to understand motoneuron loss in certain motoneuron diseases with preferential involvement of lower motor neurons.
Adult↗
[Guillain-Barré syndrome: chronic inflammatory demyelinating polyradiculoneuropathy].
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Adolescent↗
[Idiopathic orthostatic hypotension (IOH) and sympathotonic orthostatic hypotension (SOH)].
IOH occurs as progressive autonomic failure (PAF) without any neurologic symptoms indicating multiple system atrophy or Parkinson's disease. The responsible lesion for IOH is yet obscure but has been suggested to be in the peripheral sympathetic nerves, since postganglionic sympathetic neurons in IOH fail to release norepinephrine and there present extensive supersensitivities to exogenous pressors. SOH is characterized as marked tachycardia induced by hypotensive stress like standing, and is less sensitive to the administered catecholamines. Careful examinations by some pharmacological studies are essential to diagnose IOH and SOH in patients with orthostatic hypotension.
Autonomic Nervous System Diseases↗
[DNA diagnosis of X-linked recessive bulbospinal muscular atrophy by androgen receptor gene mutations].
X-linked recessive bulbospinal muscular atrophy (BSMA) is an adult-onset form of motor neuron disease, of which androgen receptor (AR) gene mutations with increased size of a polymorphic tandem CAG repeat in the coding region was found by Fischbeck et al (1991). We investigated this AR gene abnormality by polymerase chain reaction (PCR) in 16 unrelated Japanese BSMA pedigrees, including 21 patients, 11 male siblings without any neurological signs and 9 female siblings. PCR products for AR-CAG repeat obtained from 21 affected individuals were enlarged in fragment size (about 100 bp longer than normal control size), whereas those from clinically unaffected brothers of the patients and their offsprings were all normal in size. Moreover, PCR products from 8 obligate heterozygous females (carriers) consisted of two different fragments with enlarged and normal size. Our results confirmed the findings reported by Fischbeck et al, and indicated that the detection of this AR gene mutations with increased size of a polymorphic tandem CAG repeat is beneficial for pre-onset diagnosis or carrier detection of this disease.
Adolescent↗
Geometry of adult rat sensory neurons in culture; its modulation by laminin.
Geometrical analysis of highly-purified and low-density adult rat dorsal root ganglion (DRG) neuron culture proved that laminin enhanced the total neurite length and the maximal extension of neurites, but did not significantly increase the neurite branching nor soma size particularly after 4 days of culture. Survival rates of adult DRG neurons were not affected by laminin. These results suggest that laminin is a potent modulator of neurite geometry in adult rat DRG neurons, which promotes neurite elongation rather than neurite branching.
Animals↗
Human peripheral nerve sheath neoplasm: expression of Schwann cell-related markers and their relation to malignant transformation.
We immunohistochemically examined the expression of Schwann cell-related markers, nerve growth factor (NGF) receptor, S-100 alpha- and beta-proteins, glial fibrillary acidic protein (GFAP), and galactocerebroside (gal C) in 5 malignant schwannomas, 21 benign peripheral nerve sheath tumors, and 4 apparently normal sural nerves. NGF receptor was expressed in the malignant schwannomas and benign peripheral nerve sheath tumors, but not in the endoneurium of apparently normal peripheral nerves. S-100 alpha-protein was observed in malignant schwannomas and in some neurofibroma cells. All cases were strongly positive for S-100 beta-protein but were negative for GFAP and gal C. Our results suggest that these Schwann cell-related markers may be useful in identifying peripheral nerve sheath neoplasma as well as their malignant transformation.
Adult↗
Biochemical characterization of the nerve growth factor receptor in neural-related tumors.
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Animals↗
[Central motor conduction time in the pseudopolyneuritic form of amyotrophic lateral sclerosis].
Central motor conduction time (CMCT) from the cerebral motor cortex to the cervical segment of the spinal cord (C-CMCT) and CMCT from the cortex to the lumbar segment of the spinal cord (L-CMCT) were estimated using percutaneous electrical cortical, cervical and lumbar stimulation in 8 patients with pseudopolyneuritic form of amyotrophic lateral sclerosis (ALS). The results were compared to those in 18 patients with bulbar and common forms of ALS and 13 normal control subjects. Both the C-CMCT and the L-CMCT were remarkably prolonged in pseudopolyneuritic form of ALS as well as in bulbar and common forms of ALS. These results were consistent with the morphological findings that the large myelinated fibres in the corticospinal tract are depleted in pseudopolyneuritic form of ALS in which deep tendon reflexes are hypoactive and pyramidal sings are not obvious. The evaluation of CMCT is suggested to be useful for diagnosis of ALS in which upper motor neurone disorder is not manifested.
Adult↗
[A clinicopathological study of familial amyotrophic lateral sclerosis with special reference to the mode of motoneuron loss in the spinal ventral horn].
The authors analyzed clinicopathologically eight patients with familial amyotrophic lateral sclerosis (F-ALS). We performed the morphometric analysis on size and topographical distribution of the fourth lumbar spinal ventral horn cells, and correlated thus obtained results with the clinical, genetic and neuropathological features of these cases. The patients were consisted of six men and two women with age ranged between 40 and 58 years old. Six cases among them were involved predominantly in the lower-legs with generalized hyporeflexia and no Babinski's sign, which were compatible with the "pseudopolyneuritic" as a clinical form. Two other cases were involved in the upper limbs as the initial symptom and were considered to be "common form". Pathologically, five cases showed multiple system degenerations including the middle root zone of the posterior columns, Clarke's nuclei and posterior spinocerebellar tracts as well as the ventral horns and pyramidal tracts, which were designated as the form of "multiple system degeneration". In addition, three in these five cases were also associated with an extensive neuron loss and marked gliosis in the Onuf's nuclei, subthalamic, red and cerebellar dentate nuclei, suggesting that the involvement in certain F-ALS cases with a form of multiple system degeneration is more extensive in topography than ever believed. In other three cases, the neuronal degenerations were considerably restricted in the somatic motor efferent system, which were consistent with the classical pathology of the sporadic ALS, and were designated as "classical form". Five of seven cases showed a severe motoneuron loss in both the large and small neurons in the ventral horn. These five cases were heterogeneous in the pathological forms "multiple system degeneration" or "classical", but all were "pseudopolyneuritic" in clinical form. Moreover, these extensive motor neuron loss including small ones in the spinal ventral horn was similarly observed in the sporadic pseudopolyneuritic form of ALS cases. In two cases of F-ALS with "common" in clinical form, large motoneurons were fairly well preserved as are in the common form of sporadic ALS cases. Our tentative conclusion is that mode of motoneuron loss in the spinal ventral horn of F-ALS is more correlated to the clinical manifestations rather than the pathological or genetic background.
Adult↗
[Two cases of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) associated with Graves' disease].
We have reported two cases of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) associated with Graves' disease. Case 1: a 45-year-old woman noticed a diffuse goiter, palpitation and emaciation in 1977. Laboratory studies confirmed that she had Graves' disease, and she was treated with antithyroid drug. In 1986, when the hyperthyroidism was subsided, she showed progressive symmetrical weakness and numbness in her limbs, and she was almost in tetraplegia at 1987. Markedly slowed motor and sensory nerve conductions and elevated CSF proteins as well as clinical manifestations confirmed the diagnosis of CIDP. Following corticosteroid-pulse therapy and plasmapheresis resulted in good recovery in both motor and sensory impairment, though two-times of relapses were observed. Case 2: a 33-year-old man first noticed weakness in his legs in 1977, motor and sensory disturbances progressed for 12 years. Slowed nerve conduction, high CSF proteins and two-times of relapses in early phase indicated that the CIDP was the diagnosis. In 1989 he complained general fatigue, hyperhidrosis and body-weight loss. The serum thyroid hormone levels were high, and other laboratory studies confirmed the presence of Graves' disease. The cases with both CIDP and Graves' disease has rarely been reported. The background mechanism of this association is not well understood, but the susceptibility to CIDP and Graves' disease may be related to the HLA antigens and immunoglobulin Gm allotypes of which are the genes linked to the major histocompatibility complex and controlling immune responses. The present two cases commonly shared several HLA-DR antigens, but their significance should be confirmed by examining many cases.
Adult↗