Biomedical subjects

H Kurisaki

Publications and source records attributed to H Kurisaki.

At least 19 recordsLinked to original sources

PubMed2004

Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus.

The authors identified two Japanese spinocerebellar ataxia (SCA) families characterized by postural and action tremor and a very slow progression rate. A genome-wide linkage analysis revealed linkage to chromosome 3p26.1-25.3 with the highest multipoint lod score at D3S3728 (Zmax = 3.31 at theta = 0.00). The candidate region was 14.7 cM flanked by D3S1620 and D3S3691, which was partly overlapping with the locus of SCA15 characterized by pure cerebellar ataxia. Despite the difference in phenotypes, there remains a possibility that the causative gene for these Japanese SCA is allelic to SCA15.

Adult↗

PubMed2003

Pressure-induced superconductor-insulator transition in the spinel compound CuRh2S4.

We performed resistivity measurements in CuRh2S4 under quasihydrostatic pressure of up to 8.0 GPa, and found a pressure-induced superconductor-insulator transition. Initially, with increasing pressure, the superconducting transition temperature T(c) increases from 4.7 K at ambient pressure to 6.4 K at 4.0 GPa, but decreases at higher pressures. With further compression, superconductivity in CuRh2S4 disappears abruptly at a critical pressure P(SI) between 5.0 and 5.6 GPa, when it becomes an insulator.

Journal Article↗

PubMed2001

Decrease of neurons in the medullary arcuate nucleus in myotonic dystrophy.

Respiratory insufficiency has been reported frequently in patients with myotonic dystrophy (MyD). Recent data support the hypothesis that this respiratory failure results from a primary dysfunction of the central nervous system. The medullary arcuate nucleus (ARC) has been shown to be involved in the regulation of respiration. We performed a quantitative study of neurons in the ARC in eight MyD patients, ten control subjects with other neurological diseases (control group A) and eight control subjects without neurological diseases (control group B). Alveolar hypoventilation of the central type occurred in three of the MyD patients but not in the remaining MyD patients or controls. The density of neurons in the ARC in MyD patients with hypoventilation was significantly lower than in MyD patients without hypoventilation and control groups A and B. There was no significant difference in the neuronal density of the ARC between MyD patients without hypoventilation and control groups A and B. These data suggest that the neuronal loss of the ARC is associated with the presence of hypoventilation in MyD.

Aged↗

PubMed2000

[Central nervous system tuberculosis with and without HIV infection--clinical, neuroimaging, and neuropathological study].

Clinical data, neuroimaging, and neuropathology of 17 patients with central nervous system tuberculosis were reported. Of this population, 12 were men, 5, women; ages ranged from 23 to 75 years (mean, 46.9). There were three HIV positive patients among them. More than a half of patients had disturbance of consciousness as initial symptom. Neurological signs were variable such as visual acuity loss, hemiparesis, paraparesis, cerebellar ataxia, and tremor, though disturbance of consciousness was the most frequent (36%). Neuroimaging (X-ray CT and MRI) revealed meningeal enhancement (53%), tuberculoma (50%), hydrocephalus, infarction or bleeding and spinal cord tuberculoma. There were three patients who showed paradoxical progression. Eleven patients were performed CSF examination, all of them revealed increased cell count (mean, 206 counts/mm3) and protein (mean, 225 mg/dl), but only 4 patients were positive on bacteriological examination including PCR. Seven patients died and 5 patients were performed autopsy. Neuropathologically, all patients showed a stage of meningitis prominent on basal brain (basal cistern and/or Sylvian fissure). Cell infiltrations including lymphocyte, monocyte, and eosinocyte were most severe around blood vessels, and observed in all cases except one which showed only fibroblast and collagen fibers indicating healed stage. In some cases, there existed epithelioid cells and Langhans giant cells, and in some cases, fibrin exudate. There were three cases having tuberculoma, one HIV case and two non-HIV cases. Center of tuberculoma in non-HIV case was formed by caseous necrosis, and tuberculoma was surrounded by granuloma constituted by epithelioid cells and Langhans giant cells with lymphocyte cell infiltration and proliferation of blood vessels. In contrast, tuberculoma of HIV case did not include granuloma, and was formed with small cells with large nucleus which surrounded arteries. Our studies, as other studies, failed to show any differences between HIV and non-HIV patients clinically, as well as on neuroimaging study. But neuropathological study suggests that mechanism of tuberculoma formation may be different between in HIV positive patients and in non-HIV patients.

Adult↗

PubMed1999

Abnormal dentatorubral-pallidoluysian atrophy (DRPLA) protein complex is pathologically ubiquitinated in DRPLA brains.

Dentatorubral-pallidoluysian atrophy (DRPLA) is caused by expansion of a glutamine repeat in DRPLA protein. DRPLA protein undergoes greater complex formation in DRPLA brain tissue, and expanded glutamine repeat enhances complex formation of DRPLA protein. Immunoblots with and without reduction show that the DRPLA protein complex is ubiquitinated only in DRPLA brain tissue. Moreover, immunoblots of regional DRPLA brain tissues reveal that pathological ubiquitination of DRPLA protein complex is found selectively in affected lesions. Double-labeling immunohistochemical studies with antibodies against DRPLA protein and ubiquitin demonstrate that the DRPLA protein is co-localized with ubiquitin in DRPLA neurons and show characteristic neuronal cytoplasmic inclusions with ubiquitinated DRPLA protein complex in the center. Our findings suggest that DRPLA protein undergoes abnormal complex formation with expanded glutamine repeat, and then the complex is pathologically ubiquitinated in DRPLA brain tissue. Pathological ubiquitination of abnormal DRPLA protein complex plays a role in DRPLA pathology.

Adult↗

PubMed1999

[Prognosis of multiple system atrophy--survival time with or without tracheostomy].

Prognosis of 21 patients with multiple system atrophy (MSA) who deceased or received tracheostomy is described. The percentage of patients with MSA among the cases of spinocerebellar degeneration was 40% in National Tokyo Hospital. There were 12 women and 9 men, and the mean age at onset was 56 years. Seventy-four percent of MSA patients was olivopontocerebellar atrophy (OPCA), 22% was striatonigral degeneration (SND). The mean age of 17 deceased patients (10 women, and 7 men) was 65.5 years. Ten patients did not undergo tracheostomy and deceased, and 11 patients underwent tracheostomy, among whom 4 patients are still alive. Mean duration of illness from onset to death (without tracheostomy) or tracheostomy was 6.8 years. Cause of death of patients who did not undergo tracheostomy was related to paresis of the larynx or pharynx, for example, aspiration pneumonia due to dysphagia, vocal cord paralysis and sudden death. Some of those who underwent tracheostomy deceased for causes which were not directly related to MSA such as cerebral hemorrhage or uremia, but others seem to be related to some problems of respiratory center such as central chronic respiratory failure, or sudden death (sometimes it happened after infection, but the obstruction of the respiratory tract was not always present at autopsy).

Age Factors↗

PubMed1998

Loss of serotonin-containing neurons in the raphe of patients with myotonic dystrophy: a quantitative immunohistochemical study and relation to hypersomnia.

Hypersomnia occurs frequently in patients with myotonic dystrophy (MyD). We performed a quantitative immunohistochemical study of serotonin (5-HT)-containing neurons linked to hypersomnia in the dorsal raphe nucleus (DRN) and the superior central nucleus (SCN) in 8 patients with MyD, 5 of whom showed hypersomnia, and in 12 age-matched controls. The densities of 5-HT neurons in the DRN and the SCN were significantly lower in MyD patients with hypersomnia than in MyD patients without hypersomnia and controls. These data suggest that the loss of 5-HT neurons of the DRN and the SCN is associated with the presence of hypersomnia in MyD.

Aged↗

PubMed1998

Loss of catecholaminergic neurons in the medullary reticular formation in myotonic dystrophy.

OBJECTIVE: To clarify the possible relation between the extent of involvement of catecholaminergic neurons and the presence of alveolar hypoventilation in patients with myotonic dystrophy (MyD). BACKGROUND: Respiratory insufficiency has been reported frequently in MyD patients. Recent data support the hypothesis that this respiratory failure results from a primary dysfunction of the CNS. METHODS: The authors performed a quantitative immunoreactive study of tyrosine hydroxylase immunoreactive (TH+) neurons linked to hypoventilation in the dorsal central medullary nucleus (DCMN), the ventral central medullary nucleus (VCMN), and the subtrigeminal medullary nucleus (SMN)--where the autonomic respiratory center is thought to be located--in eight MyD patients and in 10 age-matched control subjects. Alveolar hypoventilation of the central type was present in three of the MyD patients but not in the remaining MyD patients or the control subjects. RESULTS: The densities of TH+ neurons of the DCMN, the VCMN, and the SMN in MyD patients with hypoventilation were significantly lower than in those without hypoventilation (p < 0.02, p < 0.01, and p < 0.01, respectively) and control subjects (p < 0.01, p < 0.01, and p < 0.01, respectively). CONCLUSIONS: These data suggest that the loss of TH+ neurons of the DCMN, the VCMN, and the SMN is associated with the presence of hypoventilation in MyD and may be an important feature of MyD.

Aged↗

PubMed1998

Reversible memory disturbance and intelligence impairment induced by long-term anticholinergic therapy.

It is controversial whether long-term anticholinergic therapy (AC-T) can cause short-term memory disturbance, long-term memory disturbance or intelligence impairment. Ninety patients with Parkinson's disease were examined prospectively to clarify the existence of memory and intelligence impairment induced by long-term AC-T. Neuropsychological tests detected eight patients with at least one of four types of deficits; intelligence impairment in four patients, verbal delayed recall impairment in eight, verbal short-term memory disturbance in five, and verbal long-term memory disturbance in six. Two types of verbal memory disturbance (short-term one and long-term one) appeared with double dissociation, suggesting that there may be an independence between the two types of verbal memory system. Older patients were more prone to suffer from these reversible deficits. Moreover, all of the patients who resumed AC-T, showed recurrence of the deficits acutely. These observations should indicate the tight relation between long-term AC-T and neuropsychological deficits.

Aged↗

PubMed1997

Intracytoplasmic inclusion bodies of the substantia nigra in myotonic dystrophy. Immunohistochemical observations.

We recently reported a significantly higher incidence of intracytoplasmic inclusion bodies (IIBs) of the substantia nigra in patients with myotonic dystrophy (MyD) than in age-matched controls. The changes are, per se, not specific, since a small percentage of disease and normal controls also showed similar inclusions. To elucidate the pathological significance of the inclusion in MyD, we studied immunohistochemical characteristics of IIBs of the substantia nigra in eight patients with MyD. Many IIBs showed moderately intense immunoreactivity for ubiquitin, microtubule-associated protein (MAP) 1 and MAP 2. However, the IIBs did not react with any of the following: anti-neurofilament protein antibodies (Abs) (68, 160 and 200 kDa), anti-neuron-specific enolase antibody (Ab), anti-tau Ab, anti-tubulin Abs (alpha and beta), anti-paired helical filament Ab, anti-actin Ab, anti-phosphorylated epitope of neurofilaments Ab, anti-synaptophysin Ab, anti-myelin basic protein Ab, anti-actin Ab and anti-glial fibrillary acidic protein Ab. Our results suggest that IIBs of the substantia nigra in MyD are related to an alteration of neuronal cytoskeleton metabolism affecting microtubular proteins in conjunction with activation of ubiquitin proteolytic systems.

Aged↗

PubMed1997

Expression of dentatorubral-pallidoluysian atrophy (DRPLA) proteins in patients.

The genetic defect dentatorubral-pallidoluysian atrophy (DRPLA) is caused by expansion of a CAG trinucleotide repeat. The mutant gene is translated into protein whose electrophoretic mobility correlates to the number of expanded CAG trinucleotide repeats, indicating that the protein carries an expanded glutamine repeat. Using two polyclonal antibodies raised against the DRPLA gene product in immunoblotting, we determined the untruncated DRPLA proteins, and showed that the amounts of mutant and wild-type DRPLA proteins were similar in DRPLA brain tissues and lymphoblastoid cells, suggesting that regulation of the level of translation of the DRPLA gene is not central to the development of the disease.

Adult↗

PubMed1997

Brain regional differences in the expansion of a CAG repeat in the spinocerebellar ataxias: dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and spinocerebellar ataxia type 1.

Three autosomal dominant spinocerebellar ataxias, dentatorubral-pallidoluysian atrophy (DRPLA), Machado-Joseph disease (MJD), and spinocerebellar ataxia type 1 (SCA1), are associated with the expansion of a CAG repeat in the respective genes. To investigate the association between CAG repeat expansion and neuropathological findings, we analyzed several brain regions from 9 cases of DRPLA, 3 cases of MJD, and 1 case of SCA1. We found that the expanded alleles were smaller in the cerebellar cortex than in other brain regions, such as the frontal cortex, in these three diseases. The discrepancy in the expanded CAG repeat length between cerebellar cortex and other tissues was most prominent in DRPLA, and especially in cases of adult-onset DRPLA. A significant correlation was found between the age at onset of DRPLA and the size of the CAG repeat expansion. Cerebella of DRPLA patients were microscopically dissected into three layers, the molecular and granular layers and the white matter, which were analyzed separately. The lower level of CAG repeat expansion in DRPLA cerebella was representative of CAG repeat expansion in the granule cells. The microdissected samples of the granular layer of the hippocampal formation, which is densely packed with neuronal cells, revealed that the degree of CAG repeat expansion in this layer was similar to that in the cerebellum. These observations suggest that granule cells in the cerebellum and hippocampus have low levels of CAG repeat expansion, and that other types of cells exhibit a higher level of CAG repeat expansion, in spinocerebellar ataxias.

Adolescent↗

PubMed1996

Immunohistochemical study of intracytoplasmic inclusion bodies of the thalamus in myotonic dystrophy.

Intracytoplasmic inclusion bodies of the thalamus in eight patients with myotonic dystrophy (MyD) were studied immunohistochemically. The intracytoplasmic inclusion bodies of the thalamus (thalamic inclusions, TIs) were strongly immunostained with anti-ubiquitin antibody (Ab) and some of them were mildly stained with anti-microtubule associated protein 1 (MAP 1) and anti-MAP 2 antibodies. However, TIs did not react with any of the following: anti-neurofilament protein Ab, anti-tau Ab, anti-paired helical filament Ab, anti-tubulin Abs (alpha and beta), anti-neuron-specific enolase Ab, anti-glial fibrillary acidic protein Ab, anti-synaptophysin Ab, anti-myelin basic protein Ab, anti-actin Ab and anti-phosphorylated epitope of neurofilaments Ab. Thus, our study demonstrates the unique immunohistochemistry of TIs in MyD which differentiates them from other intracytoplasmic inclusions in various neurodegenerative disorders.

Aged↗

PubMed1996

Neuronal loss in the medullary reticular formation in myotonic dystrophy: a clinicopathological study.

Respiratory insufficiency occurs frequently in patients with myotonic dystrophy (MyD). We have performed a quantitative study of neurons linked to respiratory function in the dorsal central medullary nucleus (DCMN), the ventral central medullary nucleus (VCMN), and the subtrigeminal medullary nucleus (SMN) in seven patients with MyD and eight age-matched controls. Alveolar hypoventilation of the central type occurred in three of the MyD patients but not in the remaining MyD patients or controls. The densities of neurons of the DCMN, the VCMN, and the SMN in MyD patients with hypoventilation were significantly lower than in MyD without hypoventilation and controls. These data suggest the neuronal loss of the DCMN, VCMN, and SMN is associated with the presence of hypoventilation in MyD and may be an important feature of MyD.

Aged↗

PubMed1995

Neuronal cell loss in the dorsal raphe nucleus and the superior central nucleus in myotonic dystrophy: a clinicopathological correlation.

A quantitative study of neurons in the dorsal raphe nucleus (DRN) and the superior central nucleus (SCN) was performed in seven patients with myotonic dystrophy (MyD), five of whom showed hypersomnia, and in eight age-matched controls. The densities of neurons in the DRN and the SCN were significantly lower in MyD patients with hypersomnia than in MyD patients without hypersomnia and control subjects. There was an appreciable positive correlation in the density of neurons between the DRN and the SCN in all MyD patients. These data suggest that the neuronal loss of the DRN and the SCN is associated with the presence of hypersomnia in MyD.

Aged↗

PubMed1995

Myotonic dystrophy with alveolar hypoventilation and hypersomnia: a clinicopathological study.

We present a case of myotonic dystrophy accompanied by alveolar hypoventilation and hypersomnia. Case history, pulmonary function tests, polygraphic recording, and multiple sleep latency test, concomitant with a restrictive ventilatory abnormality, suggested a central origin of alveolar hypoventilation and hypersomnia in our case. The most significant neuropathological findings were in the tegmentum of the brain stem. Severe neuronal loss and gliosis were observed in the midbrain and pontine raphe, particularly in dorsal raphe nucleus and superior central nucleus. Pontine and medullary reticular formation also showed a marked cell loss and fibrillary gliosis. The alveolar hypoventilation and the hypersomnia in our case may be attributed to these morphological abnormalities, and would appear to be central in nature.

Disorders of Excessive Somnolence↗

PubMed1995

A new familial disorder presenting with amyotrophic lateral sclerosis-like manifestation: a clinicopathological study.

We studied a family in which three siblings had an identical clinical feature indistinguishable from familial amyotrophic lateral sclerosis (ALS), consisting of progressive generalized neurogenic muscular atrophy with hyporeflexia and normal sensations beginning in the fourth decade. The duration of illness was about 4 years in all affected members. Autopsy of one patient revealed multiple foci of spongy degeneration in the white matter of the spinal cord, brain stem, cerebellum, and the thalamus, characterized by vacuoles of various size, foamy macrophages and degenerating swollen axons. These changes were most marked in the spinal cord, where there was neither pyramidal tract involvement nor neuronal loss in the anterior horn. The pathological findings were different from those of ALS. A similar disease affected the siblings' mother, suggesting an autosomal dominant inheritance. The disease in the kindred, therefore, appears to be a unique hereditary disorder.

Amyotrophic Lateral Sclerosis↗

PubMed1993

Carcinomatous neuropathy associated with hepatic cell carcinoma: an autopsy case report.

A 76-yr-old male patient with carcinomatous neuropathy associated with hepatic cell carcinoma, whose initial symptom was deep sensory disturbance followed by muscle weakness is described. The onset was subacute, followed by slow progression. Sural nerve biopsy, as well as electrophysiological examinations, revealed severe axonal degeneration without any evidence of demyelination. The autopsy findings were similar to findings described in the literature on carcinomatous neuropathy. Although carcinomatous neuropathy is usually associated with lung cancer, this report describes an association with hepatic cell carcinoma. The patient also had motor nerve involvement with positive serum anti-GM1 ganglioside antibody which decreased after immunosuppressant therapy in parallel with recovery of muscle weakness. The anti-GM1 ganglioside antibody may be involved in the pathogenesis of motor disturbance in the present case.

Aged↗