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Yoshio Tsuboi

Publications and source records attributed to Yoshio Tsuboi.

35 records · Page 2Linked to original sources
PubMed2004

[Thyrotoxic encephalopathy showing reversible diffusion-weighted imaging abnormalities].

A 31-year-old man was transferred to our emergency room (ER) with acute onset of high-grade fever and consciousness disturbance. His consciousness at ER was severely disturbed with restlessness. No apparent focal neurological signs were seen. MRI with diffusion-weighted images (DWI) showed high signal intensities at the corpus callosum, left cerebellar hemisphere, left deep white matter and right middle cerebellar peduncle. These lesions were low signals in apparent diffusion coefficient(ADC) map, indicating cytotoxic edema. EEG showed enhanced fast waves seen in predominantly frontal regions. CSF examination was normal except elevated initial pressure of 210 mmH2O. He was treated with high dose dexamethasone and acyclovir. His consciousness and high-grade fever with systemic inflammatory responses were dramatically improved after these treatments. Subsequent data showed hyperthyroidism with anti-thyroid stimulating hormone receptor antibodies. This case was thought to be a thyrotoxic encephalopathy with beneficial response to corticosteroid therapy. Abnormalities seen in DWI and EEG were normalized ten days later.

Acyclovir↗
PubMed2003

APOE E4 is a determinant for Alzheimer type pathology in progressive supranuclear palsy.

OBJECTIVE: To assess demographic and genetic determinants of Alzheimer type pathology in progressive supranuclear palsy (PSP). METHODS: From a total of 173 pathologically proven cases of PSP in the Society for PSP Brain Bank, 143 patients (mean age = 74.4 years, ranging from 42 to 98 years) were suitable for genetic and pathologic study. Senile plaques (SPs) and neurofibrillary tangles (NFTs) were counted in five cortical areas, Braak stage was given, and APOE genotype was determined from DNA isolated from frozen brain tissue. The APOE allele frequency in PSP with varying degrees of concomitant Alzheimer type pathology was compared with pure PSP and autopsy controls. The relationship of APOE epsilon4 to quantitative pathologic measures was also assessed. RESULTS: Most patients with PSP (103 cases) had either minimal or no Alzheimer type pathology (Braak stage III or less), but 14 patients had many SPs (>20 per low power field) and a Braak stage of IV or higher consistent with pathologic criteria for AD, and 26 patients had many diffuse plaques with minimal neurofibrillary degeneration (Braak stage III or less) consistent with pathologic aging. Alzheimer type pathology was more frequent in women and older individuals with PSP, and 19 of the 40 patients with PSP with Alzheimer type pathology carried at least one APOE epsilon4 allele. The epsilon4 allele frequency was significantly higher in PSP with AD or pathologic aging than in pure PSP, and APOE epsilon4 correlated with the average maximal density of both neocortical SPs and NFTs. CONCLUSION: APOE epsilon4 is a risk factor for Alzheimer type pathology in PSP. Alzheimer type pathology is an independent process unrelated to PSP in cases with both types of pathologies.

Adult↗
PubMed2003

Clinical-electrophysiological correlation of tremor and myoclonus in a kindred with the N279K tau mutation.

We used electrophysiological methods to study the hyperkinetic movement disorders in a pallido-ponto-nigral degeneration (PPND) family, which harbors the N279K tau gene mutation. Our purpose was to: (1). characterize the tremor patterns, (2). characterize the myoclonus physiology, (3). determine whether electrophysiology can detect abnormalities in asymptomatic cases. In PPND, we found that the activation tremors correlated with a semi-rhythmic 6-10 Hz electromyography (EMG) pattern, and the rest tremors showed a reciprocal 4-6 Hz pattern. At least two different myoclonus physiology patterns exist in PPND, most notably contrasted by the presence or absence of a demonstrable electroencephalography (EEG) correlate. Electrophysiology yielded remarkable findings in those asymptomatic at-risk individuals that carried the N279K tau mutation.

Electromyography↗
PubMed2003

Two large Polish kindreds with levodopa-responsive Parkinsonism not linked to known Parkinsonian genes and loci.

PURPOSE: We describe two newly discovered large Polish families with Parkinsonism, PL-Krakow 1 and PL-Krakow 2. SCOPE: As illustrated by case reports from two patients, the disease phenotype is similar to that seen in patients with idiopathic Parkinson's disease, and affected individuals show a positive response to levodopa therapy. Molecular genetic studies failed to demonstrate a single chromosomal haplotype that segregated with disease for any of the known loci for Parkinsonism. CONCLUSIONS: The study of large kindreds such as this provides opportunities to find new Parkinsonian loci and mutations. This knowledge will help to better our understanding of the basic mechanisms leading to the degeneration of vulnerable substantia nigra neurons and other susceptible brain structures.

Activities of Daily Living↗
PubMed2003

[Japanese contribution to the understanding of frontotemporal dementia and parkinsonism linked to chromosome 17(FTDP-17)].

Since the original description of frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) during the Consensus Conference held in Ann Arbor, Michigan in 1996, it has become apparent that this syndrome has worldwide distribution. More than 70 families have been described in North America, Europe, Australia and Asia. The molecular genetic studies have identified 29 mutations outside and on exon 10 of tau gene. Here, we report the progress in clinical, genetic and pathological studies of FTDP-17 in Japan. There have been 15-separetely ascertained families described in Japan. These kindreds harbor following tau mutations: exon 10, exonic mutations, N 279 K, N 296 H, P 301 L and P 301 S; exon 10 5' splice-site mutations, S 305 N (-2), +11, and +12; exon 1, R 5 H mutation; exon 9, L 266 V mutation; and exon 13, R 406 W mutation. The phenotype of FTDP-17 kindreds varies significantly between families with different mutations and among the families carrying the same mutation. This variability is also seen in Japanese kindreds. Exon 10, P 301 L, +16 and N 279 K mutations are the most common but only P 301 L and N 279 K mutations have been described so far in Japan. On the other hand, R 5 H, N 296 H, +11, and +12 mutations have not been identified outside of Japan. Comparison of phenotypes of Japanese and non-Japanese families with P 301 S, P 301 L and R 406 W mutations uncovers significant differences in clinical presentations. It is difficult to compare pathology of Japanese and non-Japanese families on the basis of available medical literature but no apparent differences can be seen. Autopsies demonstrate the presence of neuronal and glial tau inclusions and ballooned neurons, frequently in the distribution seen in other sporadic tauopathies. A search for the common founder in Japanese families may be successfully performed. FTDP-17 families have been identified with increasing frequency in Japan. The discovery of tau mutations and the fact that they are responsible for the disease processes in the brain lead to the major advancement of our understanding of neurodegeneration. It is hoped that future studies of these families will also lead to finding the curative treatments for the tauopathies.

Chromosomes, Human, Pair 17↗
PubMed2003

[Cheiromegaly and podomegaly associated with primary progressive multiple sclerosis: a case report].

Cheiromegaly is an extremely rare syndrome characterized by unilateral hand hypertrophy with hyperhydrosis. Unilateral foot hypertrophy has been described as podomegaly. Cheiromegaly/podomegaly is usually seen in patients with syringomyelia. Although the underlying pathophysiology remains unknown, it is speculated that chronic cervical cord injury including central descending sympathetic tract is essential for development of this syndrome. We report a cheiromegaly/podomegaly in a case with primary progressive multiple sclerosis. This 29-year-old woman developed cheiromegaly and podomegaly in her right hand and foot associated with chronic progressive cervical myelopathy. At age two, she developed transient paraparesis with full recovery, suggesting her symptomatic onset of her longstanding illness. At age 10, she had left leg weakness, and gradually worsened. On admission at age 29, she had muscular weakness in her left upper and both lower extremities. Sensory impairment was seen below her 5th cervical and 6th thoracic dermatome level. Her deep tendon reflexes were exaggerated in all extremities with bilateral Babinski's signs. MR imaging showed multiple plaques in the white matter of the brain associated with cervical spinal cord lesions. Taken together with the presence of oligoclonal band IgG in the cerebrospinal fluid, this patient met the criteria of multiple sclerosis. This is the first report presenting cheiromegaly/podomegaly not associated with syringomyelia, but with multiple sclerosis. It is suggested that cheiromegaly/podomegaly in present case may be caused by chronic cervical cord injury affecting descending central sympathetic tract associated with primary progressive multiple sclerosis.

Acromegaly↗
PubMed2002

Physiologic assessment of autonomic dysfunction in pallidopontonigral degeneration with N279K mutation in the tau gene on chromosome 17.

Autonomic function was investigated in five affected and five at-risk members of a single kinship of pallidopontonigral degeneration (PPND), which is a progressive syndrome of parkinsonism and frontotemporal dementia resulting from a mutation in the N279K tau gene on chromosome 17. Affected subjects reported symptoms including hyperhidrosis, sialorrhea, urinary frequency or incontinence, thermal intolerance, male sexual dysfunction, lacrimation, and dryness of the eyes or mouth. None had orthostatic hypotension. Autonomic testing revealed mild-to-moderate abnormalities in all five affected subjects and minor abnormalities in the three oldest, asymptomatic, at-risk subjects. Findings in affected subjects consisted of preganglionic sudomotor dysfunction in all five, impaired cardiovagal function in three, and reduced or absent pupillary near responses in four. Tests of adrenergic function were normal in all subjects. The degree of autonomic dysfunction correlated significantly with disease duration and with indices of disease severity. In conclusion, there is evidence in PPND of a disturbance in the central autonomic network.

Adult↗
PubMed2002

A clinicopathological study of vascular progressive supranuclear palsy: a multi-infarct disorder presenting as progressive supranuclear palsy.

BACKGROUND: Clinical features suggesting a diagnosis of progressive supranuclear palsy (PSP) include early falls, axial rigidity, vertical supranuclear ophthalmoplegia, and levodopa unresponsiveness. When these clinical features are present, the diagnosis is almost always PSP, yet vascular disease sometimes has a similar presentation, referred to as vascular PSP. OBJECTIVE: To evaluate clinical and pathologic features of cases of vascular PSP submitted to a PSP brain bank. DESIGN: Review of gross and microscopic neuropathological features, determination of tau haplotype, and medical record review of 4 patients with an antemortem diagnosis of PSP who did not meet the pathologic criteria for PSP and instead had vascular pathologic abnormalities. RESULTS: All patients had vertical supranuclear ophthalmoplegia, a history of falls, and a gradually progressive disease course. Falls began 1 year after symptom onset, and all patients had asymmetric findings on a neurological examination. A magnetic resonance imaging scan revealed lacunar basal ganglia infarcts in one patient and an increased T2-weighted signal in the corona radiata and centrum semiovale in another. Gross and microscopic neuropathological studies demonstrated infarcts in the cerebral cortex (n = 4), thalamus (n = 4), basal ganglia (n = 3), and cerebellum (n = 4). The brainstem was affected in one patient, but no infarcts were detected in the subthalamic nucleus or substantia nigra. Of the 4 patients, 3 carried an H2 tau haplotype, a rare occurrence in the general population. CONCLUSIONS: Asymmetric signs, falls after 1 year of symptom onset, vascular lesions on a magnetic resonance imaging scan, and an H2 tau haplotype may help differentiate vascular PSP from PSP. Thalamic and basal ganglia infarcts are common in patients with vascular PSP and, when present, may contribute to misdiagnosis.

Accidental Falls↗
PubMed2002

Clinical features and disease haplotypes of individuals with the N279K tau gene mutation: a comparison of the pallidopontonigral degeneration kindred and a French family.

BACKGROUND: An N279K missense mutation in exon 10 of the tau gene reported in an American family with pallidopontonigral degeneration (PPND family) was recently found in members of a French kindred with dementia and supranuclear palsy. OBJECTIVES: To compare clinical phenotypes of both families and to perform genealogical and molecular genetic studies to determine whether they are derived from a common founder. DESIGN AND METHODS: We performed clinical examinations of affected members of both families and compared clinical phenotypes, existing genealogical family records, and chromosome 17 microsatellite repeat markers in the vicinity of the tau gene. RESULTS: The inheritance pattern is autosomal dominant in the PPND family and appears so in the French family. Average age at onset of clinical symptoms was 43 years in the PPND family and 41 years in the French family. Mean disease duration was 8 years in the PPND family and 6 years in the French family. Parkinsonism, personality changes, and dementia of the frontotemporal type were seen in both kindreds. All affected patients exhibited rapidly progressive parkinsonism characterized by bradykinesia, tremor, postural instability, and rigidity. Some had a transient response to levodopa therapy during the initial stages. Pyramidal signs and eye movement abnormalities, including supranuclear gaze palsy, were common. Results of linkage studies of the tau region in chromosome 17 did not reveal a haplotype common to both kindreds. CONCLUSIONS: Affected members from both families had more clinical similarities than differences. Results of genealogical and molecular genetic studies determined that the families were not related. The N279K mutations found in both families have independent origins.

Adult↗
PubMed2002

Identification and characterization of temperature-sensitive mild mutations in three Japanese patients with nonsevere forms of very-long-chain acyl-CoA dehydrogenase deficiency.

Very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is clinically classified into severe, intermediate, and myopathic forms. We identified mutations in three unrelated Japanese patients with VLCAD deficiency: two with the myopathic form and one with the intermediate form, all compound heterozygotes of K264E/M437V, A416T/1798delA, and P89S/IVS16-3delAA, respectively. We characterized four missense mutations, K264E, M437V, A416T, and P89S, by transisent expression analysis, using SV40-transformed fibroblasts derived from a VLCAD-null patient, as recipient cells. In transient expression of the wild-type VLCAD cDNA, VLCAD activity at 30 degrees C was higher than at 37 degrees C. Moreover, this temperature-sensitive character is more evident in all the mutant proteins tested than in wild type. Based on characterization of the five missense mutations identified in four Japanese patients, including data on one patient with the myopathic form previously reported, patients with the nonsevere forms (intermediate or myopathic forms) have missense mutations with residual activities in at least one allele. Expression analysis at 30 degrees C may be more useful for evaluating these missense mutations, compared with that at 37 degrees C.

Acyl-CoA Dehydrogenase, Long-Chain↗
PubMed2002

Contrasting genotypes of the tau gene in two phenotypically distinct patients with P301L mutation of frontotemporal dementia and parkinsonism linked to chromosome 17.

Association between clinical characteristics and types of the tau gene mutation has been observed in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). P301L mutation seldom causes parkinsonism as a leading symptom; instead it usually causes personality changes with aggressiveness and disinhibition. We experienced two patients of FTDP-17 from separate families (designated as patient 1 from family 1 and patient 2 from family 2). They had P301L mutation in common. However, their phenotypes were distinct from each other. Aggressive behaviors and disinhibition were the main symptoms in patient 1, whereas parkinsonism was the most prominent feature in patient 2. Their genotypes of the tau gene were different at three sites, i. e. in exon 6, in intron segment before exon 10, and in exon 13, though they do not bring amino acid change. Patient 1 had more prevalent C/C, C/C, and rare T/C respectively. Patient 2 had less prevalent T/T, A/A, and more prevalent T/T respectively. These findings suggest two things. Firstly, they do not share a common founder for P301L mutation. Secondly, either of the two less prevalent genotypes observed in patient 2 may be the factor to modify the phenotype of P301L mutation into those unusual clinical features with prominent parkinsonism. Accumulation of information as to phenotype-genotype association will settle this hypothesis.

Age of Onset↗
PubMed2002

[Clinical effectiveness of tandospirone citrate (5-HT1A agonist) on patients with progressive supranuclear palsy].

BACKGROUND: Serotonin activity has been shown to be increased in the basal ganglia of patients with progressive supranuclear palsy (PSP), and may be responsible for its extrapyramidal features that do not respond to 1-dopa. OBJECTIVE: To investigate clinical effectiveness of 5-HT1A agonist, tandospirone citrate (TC), on various clinical features of PSP. METHOD: Clinical signs of eight patients (2 women and 6 men) who fulfilled NINDS-SPSP criteria of PSP were studied before and after administration of TC. Each of vertical gaze palsy, apraxia of eyelid opening, neck dystonia, bradykinesia, postural instability, gait disturbances, dysarthria, dysphagia, and bladder disturbances was graded, and evaluated before, and two and four weeks after oral administration of TC 30 mg/day. RESULTS: TC was well tolerated in six patients for four weeks. The other two patients developed dizziness or liver dysfunction in the second week, and dropped out. Neck dystonia, postural instability, and bradykinesia were improved significantly in the fourth week. On the contrary, vertical gaze palsy, dysarthria, and dysphagia responded poorly to TC. Apraxia of eyelid opening was present in three patients, and was improved in two. Bladder disturbances were present in three patients, and did not respond to TC. CONCLUSION: Among various clinical features in PSP, TC was effective preferentially on extrapyramidal ones. Suppression of serotonergic activities in the basal ganglia of PSP may be underlying in the effectiveness of this 5-HT1A agonist.

Aged↗
PubMed2002

Magnetic resonance imaging and deep brain stimulation.

OBJECTIVE: To determine whether cranial magnetic resonance imaging (MRI) is associated with deep brain stimulation (DBS) lead displacement or program interference. METHODS: In vitro and in vivo studies were performed with the Itrel II implantable pulse generator (IPG) (Model 7424; Medtronic, Minneapolis, MN), Medtronic 3387 and 3389 leads, and a 1.5-T GE Horizon LX scanner (General Electric, Milwaukee, WI). In the in vivo study, two MRI volumetric data sets were compared for each of five patients undergoing staged, bilateral, DBS electrode placement in the thalamic or subthalamic nucleus. The data sets were acquired shortly after the initial implantation and during stereotactic planning for the second implantation (1-8 mo between acquisitions). An additional thalamotomy-treated patient was included as a control patient. Volumetric data were analyzed in a blinded manner, using AnalyzeAVW 3.0 software (Biomedical Imaging Resource, Mayo Clinic, Rochester, MN), to determine lead movement. In the in vitro study, the IPG and leads were positioned in the magnetic field in various configurations and were systematically assessed for movement. RESULTS: In vivo, the majority of measured deviations (88%) were within the standard error of measurement (1.4 mm). The maximal measured deviation was 3 mm (2% occurrence). Excellent tremor control with stimulation was demonstrated, which did not change after MRI. In vitro, the DBS leads demonstrated no deflection when introduced into the magnetic field. Similarly, no changes in IPG battery strength, lead impedance, or program settings were observed. CONCLUSION: MRI was not associated with significant DBS electrode movement or changes in clinical responses. Other IPG models and components and MRI scanners should be evaluated, to develop specific guidelines for MRI among individuals with implanted DBS systems.

Electric Stimulation Therapy↗
PubMedDate not supplied

Role of video-assisted thoracic surgery for the treatment of myasthenia gravis: extended thymectomy by median sternotomy versus the thoracoscopic approach with sternal lifting.

The role of video-assisted thoracic surgery (VATS) thymectomy is still being studied, and many surgeons remain skeptical of the value of this recent option. We made a retrospective evaluation to ascertain whether VATS-extended thymectomy is as reliable as standard median sternotomy in the treatment of myasthenia gravis (MG) and whether the endoscopic procedure presents any advantages for patients. Eighteen consecutive patients requiring extended thymectomy for MG were treated between April 1997 and September 2003 at our hospital. Nine patients received VATS-extended thymectomy, and the remaining nine patients received standard extended thymectomy by sternotomy. In the VATS group, the anterior mediastinal space was well visualized by sternal lifting. The mean operative time was 268.3 +/- 51.1 minutes in the VATS group and 177.3 +/- 92.5 minutes in the sternotomy group. Operative time was significant longer in the VATS group than in the sternotomy group (P < 0.05). The mean operative bleeding was 68.6 +/- 47.8 ml in the VATS group and 154.1 +/- 109.0 ml in the sternotomy group. Operative bleeding was significantly less in the VATS group than in the sternotomy group (P < 0.05). There was no significant difference between the two groups with regard to postoperative duration of chest tube or the level of serum C-reactive protein on the first operative day. There was a downward trend in nicotinic acetylcholine receptors antibody levels after thymectomy compared with before thymectomy in both groups. VATS thymectomy should be considered a valid alternative to the established approaches aimed at achieving a "curative thymectomy" in patients with MG.

Adolescent↗