Pure cerebellar ataxia phenotype in Machado-Joseph disease.
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Age of Onset↗
Biomedical subjects
S Tsuji
Publications and source records attributed to S Tsuji.
Anti-Yo antibody binding to 62-, 52-, or 58-kd protein recognizes a single molecule.
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Animals↗
Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism.
We present the clinical features of 17 patients from 12 Japanese families with familial juvenile parkinsonism suggesting autosomal-recessive inheritance (AR-JP). Because the marriages of the parents in all but one family were consanguineous and all patients were only first generation, an autosomal-recessive trait was strongly suspected. Analysis of the clinical features showed female predominance, mean age at onset 27.8 years, and slow progression. The symptoms of the parkinsonian triad (tremor, rigidity, and bradykinesia) were mild, but gait freezing, hyperreflexia, foot dystonia, and retropulsion were relatively prominent. A characteristic finding was amelioration of parkinsonian symptoms after sleep in all patients. Response to levodopa was satisfactory, but dopa-induced choreic limb dyskinesia and wearing-off phenomenon occurred frequently. Juvenile parkinsonism is a syndrome that encompasses several clinical entities. The similarity of clinical findings in these patients, and the differences from other types of parkinsonism, indicates that AR-JP is distinct clinical entity.
Adolescent↗
Elevation of cerebral lactate detected by localized 1H-magnetic resonance spectroscopy in migraine during the interictal period.
We used localized 1H-magnetic resonance spectroscopy (MRS) to study the metabolic changes in the brains of patients with migraine during the interictal period. Measurement of metabolite levels in the occipital visual cortex in six normal subjects and six patients disclosed high lactate levels in the five patients who had experienced a migraine attack within the previous 2 months. One patient who had not experienced a migraine attack in the previous 4 years did not show a lactate peak. We speculate that anaerobic glycolysis occurs in the brains of patients with migraine during the interictal period, and a long attack-free period may normalize the subclinical metabolic disturbance.
Adolescent↗
Detection of Salmonella DNA in chicken embryos and environmental samples by polymerase chain reaction.
By polymerase chain reaction (PCR) using a pair of primers specific for Salmonella phoE gene a 365-bp specific gene fragment could be amplified from yolk of infertile eggs and dead-in-shell chicken embryos, and from environmental samples. Out of 45 dead-in-shell embryo samples, 20 (44.4%) were found positive for Salmonella DNA by PCR compared to 11 (24.4%) by bacteria isolation. Salmonella DNA could also be detected from infertile eggs, chicken faeces, floor litter and chick fluff, which incidence was higher than that by bacteria isolation.
Animals↗
Non-Mendelian transmission in dentatorubral-pallidoluysian atrophy and Machado-Joseph disease: the mutant allele is preferentially transmitted in male meiosis.
Autosomal dominant dentatorubral-pallidoluysian atrophy (DRPLA) and Machado-Joseph disease (MJD) are neurodegenerative disorders caused by CAG trinucleotide repeat expansions. An inverse correlation of age at onset with the length of the expanded CAG trinucleotide repeats has been demonstrated, and the intergenerational instability of the length of the CAG trinucleotide repeats, which is more prominent in paternal than in maternal transmissions, has been shown to underlie the basic mechanisms of anticipation in DRPLA and MJD. Our previous observations on DRPLA and MJD pedigrees, as well as a review of the literature, have suggested that the numbers of affected offspring exceed those of unaffected offspring, which is difficult to explain by the Mendelian principle of random segregation of alleles. In the present study, we analyzed the segregation patterns in 211 transmissions in 24 DRPLA pedigrees and 80 transmissions in 7 MJD pedigrees, with the diagnoses confirmed by molecular testing. Significant distortions in favor of transmission of the mutant alleles were found in male meiosis, where the mutant alleles were transmitted to 62% of all offspring in DRPLA (chi2 = 7.69; P<.01) and 73% in MJD (chi2 = 6.82; P<.01). The results were consistent with meiotic drive in DRPLA and MJD. Since more prominent meiotic instability of the length of the CAG trinucleotide repeats is observed in male meiosis than in female meiosis and meiotic drive is observed only in male meiosis, these results raise the possibility that a common molecular mechanism underlies the meiotic drive and the meiotic instability in male meiosis.
Adolescent↗
Somatic mosaicism of expanded CAG repeats in brains of patients with dentatorubral-pallidoluysian atrophy: cellular population-dependent dynamics of mitotic instability.
Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disease caused by unstable expansion of a CAG repeat in the DRPLA gene. We performed detailed quantitative analysis of the size and the size distribution (range) of the expanded CAG repeats in various regions of the CNS of eight autopsied patients with DRPLA. Expanded alleles (AE) showed considerable variations in size, as well as in range, depending on the region of the CNS, whereas normal alleles did not show such variations, which indicates the occurrence of somatic mosaicism of AE in the CNS. The AE in the cerebellar cortex were consistently smaller by two to five repeat units than those in the cerebellar white matter. Moreover, the AE in the cerebral cortex were smaller by one to four repeat units than those in the cerebral white matter. These results suggest that the smaller AE in the cerebellar and cerebral cortices represent those of neuronal cells. The ranges of the AE in the cerebral cortex, cerebral white matter, and cerebellar white matter showed considerable variation ranging from 9 to 23 repeat units, whereas those in the cerebellar cortex showed little variance and were approximately 7 repeat units. The ranges of the AE in the cerebral cortex, cerebral white matter, and cerebellar white matter were much broader in patients with higher ages at death than they were in patients with lower ages at death, raising the possibility that the range of AE increases with time, as the result of mitotic instability of AE.
Adult↗
[How was the gene for dentatorubral-pallidoluysian atrophy discovered?].
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Atrophy↗
[Motor initiation difficulty of right upper extremity induced by tactile-stimulation after infarction in the left anterior cerebral artery territory].
We report a patient who manifested motor initiation difficulty of the right upper extremity, which was caused by tactile-stimulation on his right palm or back. The patient was a 62-year-old right-handed man, who showed reduction of spontaneous speech, slight paresis in the right lower extremity, and left unilateral ideomotor apraxia. He initially showed grasping reflex in the right hand, which disappeared in a month. MRI revealed infarction in the left medial frontal lobe and anterior-half of the corpus callosum. He complained that he was not able to initiate to move his right hand after his right palm or back touched something. He showed no paresis, no abnormal muscle tonus, no involuntary movement. Detailed examination revealed that it was an initiation disturbance caused by tactile-stimulation on his right palm or back. We concluded that this phenomenon, motor initiation difficulty, is one of the disturbances among motor process such as motor initiation, maintainance, and termination. The medial frontal lobe seems to manage the execution of motor process, therefore, lesions in the frontal lobe cause disturbance of motor process. And tactile-stimulation has a close relation to the reaction through the medial frontal lobe, thus, frontal lobe lesion may cause a misinteraction which retrieves a wrong reaction from a certain stimulation.
Arm↗
[A case report of chronic encapsulated intracerebral hematoma].
Chronic encapsulated intracerebral hematoma is a rare clinicopathological entity. The authors reported a case of a 52-year-old male who presented with progressive sensory disturbance of the left extremities three weeks prior to admission. Plain CT and MRI scans revealed a subcortical mass in the right temporal lobe associated with extensive peritumoral edema and intratumoral hemorrhage (mixed intensity on T1WI, low intensity on T2WI). There was a ring-like enhancement with GdDTPA. These findings strongly suggested metastatic melanoma associated with intratumoral hemorrhage. During the operation, the mass appeared partly at the surface of the brain and was easily extirpated totally. Histologically, the specimen showed chronic encapsulated hematoma with a thick, fibrous capsule and there was no evidence of neoplasm. The postoperative course was uneventful and follow up CT scan showed disappearance of the mass and the surrounding edema. The relevant literature was reviewed, and the pathogenesis of this entity was discussed.
Cerebral Hemorrhage↗
[Evaluation of pulmonary perfusion in a patient with agenesis of the left pulmonary artery: usefulness of radionuclide angiography].
We reported a case with agenesis of the left pulmonary artery, in which radionuclide angiography with 99mTc-HSA and time activity curve (TAC) were useful in evaluating pulmonary perfusion in the effected lung. The case involved a 32-year-old male, who underwent nuclear medicine examination including 99mTc-MAA scanning, 81mKr scanning and 99mTc-HSA angiography. 99mTc-MAA and 81mKr scanning showed the perfusion defect and decreased ventilation in the effected lung, respectively. On the other hand, the delayed images of 99mTc-HSA angiography showed the existence of perfusion in the effected lung, although the early images showed the perfusion defect in the same lung. The TAC whose region of interest was placed on the hilus showed that the effected lung was gradually filled with the blood flow through the collateral pathways. In addition, the ratio of area under the TAC on the contralateral lung versus the effected lung was 4.6, while the volume ratio of the contralateral lung versus the effected lung obtained from X-ray CT images was 2.7. Therefore, it was suggested that the perfusion per volume in the effected lung was decreased, compared with that in the contralateral lung. It was concluded that 99mTc-HSA angiography was useful in evaluating the perfusion of the effected lung in a patient with agenesis of the left pulmonary artery.
Adult↗
[Molecular genetics of apolipoprotein E and its receptors, implications for genetic risk factors of Alzheimer's disease].
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Alzheimer Disease↗
[Hereditary cardiac arrhythmia].
Although most of arrhythmia are secondary to cardiac disease, for example, ischemic heart disease and valvular heart disease, some types of arrhythmia are hereditary. Long QT syndrome (LQTS) is a hereditary cardiac disorder that causes syncope and sudden death from ventricular tachyarrhythmia. A boy eight years old, who had the familial history of LQTS in his sister and mother, admitted in our hospital. He had some episodes of syncope and markedly prolonged QT interval of 0.58 seconds in electrocardiogram. After follow-up of 12 years, he died suddenly because of interrupted medication including beta-blocker. Another patient with ventricular tachyarrhythmia also admitted. His family tree in which three young men died suddenly, revealed hereditary cardiomyopathy. Hereditary cardiac arrhythmia as shown the above clinically important because of prevention from sudden death, especially in young patients.
Adrenergic beta-Antagonists↗
[Analysis system of microsatellite polymorphism using automated laser fluorescent DNA sequencer].
Microsatellite polymorphisms are very important tool for linkage analysis. Now we can obtain some very fine linkage maps and many highly polymorphic microsatellite markers for linkage analysis. We developed a new efficient system for analysis of microsatellite polymorphism using automated laser fluorescent DNA sequencer. Ordinary PCR method with RI labeled primer has been used for analysis of microsatellite polymorphism, but our system mainly consists of FITC labeled primer and DNA autosequencer. There are some benefits in this system such as short analysis time, easy handling, high safety, and use of computer that enable to automatically detect allele size, save raw data, and connect to linkage analysis program on line.
Base Sequence↗
A method of evaluating drug efficacy by statistical analysis of healing speed of peptic ulcer.
At present, the evaluation of anti-ulcer drugs is generally accomplished simply by calculating the cumulative healing rate at a certain point of time during treatment, which does not implicate any analysis of the healing speed of the ulcer. If the cumulative healing rate of an ulcer is expressed as a function of drug administration time, t, then it will be possible to calculate parameters concerning the healing speed of ulcers and thus evaluate drug efficacy as the time series analysis of the cumulative healing rate. A new method of evaluating anti-ulcer drugs by a statistical analysis of healing speed is proposed. A non-linear regression analysis was performed between two variables, t (time of drug administration: week) and y (non-healing rate: %), to obtain the exponential function y = Ae-kt. The theoretical values calculated from the exponential equation were in close proximity to the observed values. With this analysis, four parameters concerning the healing speed were defined, namely the healing rate constant, the initiation time of healing, the half-life of non-healing rate and the time necessary for 50% healing. With this method, the efficacy of drugs on peptic ulcer healing was dynamically analysed, the non-healing rate (y) being expressed as an exponential function of length of time (t) of treatment, thus obtaining digital parameters for healing speed.
Anti-Ulcer Agents↗
[Molecular approach for analyses of gut function: an overview].
This paper reviewed recent progress in analyses of gut function by the aid of molecular biology. Particularly noted were 1) involvement of immediate early genes in mucosal epithelial proliferation in vitro and in ulcer healing in rat stomach in vivo; and 2) possible involvement of c-kit/stem cell factor, endothelin-receptor B, endothelin-3 and ret in regulation of gut motility and Hirschsprung's disease. These cases show that molecular biology, together with novel approaches through medical engineering, significantly expands our knowledge on regulation of gut functions.
Animals↗
[P300 findings in patients with corticobasal degeneration].
An auditory discrimination paradigm was employed to elicit the P300 component of the event-related potentials from three patients with clinically diagnosed corticobasal degeneration (CBD). Presenile and senile dementia of Alzheimer type (DAT), vascular dementia (VD) and age-matched control subjects were also examined. All patients with CBD manifested limb kinetic apraxia, hemiparkinsonism and mild dementia. Brain MRI revealed marked parietal atrophy, which was predominant in contralateral to the extremities with severe motor dysfunction. 123I-IMP SPECT analysis showed asymmetric reduction of cerebral blood flow, in accordance with the MRI findings. The P300 latencies in the two CBD patients were markedly prolonged compared to those of DAT and VD patients, although they were not as severely demented as DAT and VD patient. It should be noted that the P300 was not detected in one patient with CBD. The latencies of the N100 were not significantly different among the all groups. These abnormal findings of the P300 may be characteristic in CBD, and, furthermore, may be associated with the parietal lobe atrophy and low blood flow in cortex and thalamus revealed by brain MRI and SPECT.
Aged↗
[A case report of late-onset Huntington disease without family history and caudate atrophy who has diagnosed clinicopathologically and genetically].
We report a 66-year-old male with typical symptoms of Huntington's disease (HD), but without family history or atrophy of caudate nucleus on brain CT. The diagnosis of HD was confirmed in this apparently sporadic case by neuropathological findings as loss of small-sized neuron with gliosis in the striatum, and molecular testing of CAG repeat of the gene for HD using post mortem tissue. The DNA analysis showed that he had a mildly expanded allele with 45 repeat units, in the size range seen in HD chromosomes. The result suggests that there are some correlations between the repeat length and the clinicopathological findings such as late onset, lack of family history and insusceptible caudate atrophy.
Age of Onset↗