[Transient elevation of the number of microembolic signal in a patient with primary antiphospholipid antibody syndrome].

We report a 55-year-old man complaining of monoparesis of the right arm and dementia. Brain magnetic resonance imaging (MRI) demonstrated multiple foci of fresh cerebral embolism. The serum lupus anticoagulant was positive, however, the serum anticardiolipin antibody and other autoantibodies indicating connective tissue diseases were negative.

[A suspected case of alcoholic pellagra encephalopathy with marked response to niacin showing myoclonus and ataxia as chief complaints].

We report a 47-year-old alcoholic man with alcoholic pellagra encephalopathy (APE) showing myoclonus and ataxia as chief complaints. He had been a heavy drinker for 30 years. He had noticed appetite loss and subsequently showed a subacutely progressive gait disturbance.

[A quantitative evaluation of spinocerebellar degeneration by an acoustic analysis--the effect of taltirelin hydrate on patients with Machado-Joseph disease].

A clinical evaluation of 10 patients with Machado-Joseph disease (MJD) was performed by using an acoustic analysis soft (SoundScope, GW Instruments Inc) before and on 4 weeks of treatment of taltirelin hydrate (TH). A rapid repetitive monosyllable/ka/was recorded as the samples were analyzed in a computer. The repetition period (ms) and the maximum intensity (volt) was measured from the sound spectrogram and the amplitude envelope for each speech wave.

A patient with dementia with Lewy bodies and codon 232 mutation of PRNP.

The authors describe a patient who had a point mutation at codon 232 of the prion protein gene, resulting in the substitution of methionine for arginine (M232R). The patient developed dementia and died 6 years after its onset. Autopsy revealed dementia with Lewy bodies, not Creutzfeldt-Jakob disease.

Using vital signs to diagnose impaired consciousness: cross sectional observational study.

Objectives: To determine whether any vital signs can be used to quickly identify brain lesions in patients with impaired consciousness.

Design: Cross sectional observational study.

Setting: Emergency department of an urban hospital, Japan.

[Statistic rCBF study of extrapyramidal disorders].

We studied regional cerebral blood flow (rCBF) in 16 patients with Parkinson's disease (PD), 2 patients with dementia with Lewy bodies (DLB), 2 patients with progressive supranuclear palsy (PSP), 2 patients with striatonigral degeneration, and 16 normal volunteers, using Three-dimensional stereotactic surface projections (3 D-SSP). Decreased rCBF in PD patients was shown in the posterior parietal and occipital cortex. Decreased rCBF in DLB was shown in the frontal, parietal and occipital cortex with relative sparing of the sensorimotor cortex.

Longitudinal changes in brain CT scans and development of dementia in Down's syndrome.

To determine the relationship of the development of dementia to longitudinal changes in brain CT scans in patients with Down's syndrome (DS), we studied 14 Japanese DS patients at an interval of 10 years. The age at entry to the study was 35.7 +/- 9.

Isolation and structure of the mouse 14-3-3 eta chain gene and the distribution of 14-3-3 eta mRNA in the mouse brain.

14-3-3 protein is a brain-specific protein discovered by Moore and Perez, but at present is thought to be a multifunctional protein. To clarify the brain-specific function of the protein, we intend constructing a 14-3-3 eta gene knock-out mouse. As the first step of this process, we isolated the mouse 14-3-3 eta chain gene and determined its structure.

[Analysis of regional cerebral blood flow and distribution volume in Machado-Joseph disease by iodine-123I IMP single photon emission computed tomography].

Machado-Joseph disease (MJD) is an autosomal dominant spinocerebellar ataxia. Its clinical features vary greatly in different generations of the same family. Regional cerebral blood flow (rCBF) and distribution volume (Vd) in the pons, cerebellum, and cerebral cortex were measured in 12 patients with MJD by autoradiography (ARG) and the table look-up (TLU) method of iodine-123 IMP (123I-IMP) single photon emission computed tomography (SPECT).

Iron overload without the C282Y mutation in patients with epilepsy.

To test the hypothesis that iron overload predisposes to epilepsy, transferrin saturation in 130 patients with epilepsy and sex and age matched 128 control subjects without epilepsy were studied. Mean transferrin saturation was significantly higher in the epilepsy group (39.9 (SD 19.

Classification of psychiatric symptoms in patients with epilepsy.

Epilepsy is a neurological disorder, but many patients with epilepsy also have psychiatric symptoms. These symptoms and the underlying psychopathology vary considerably among patients, and the classification of these symptoms is disputed. Some classifications are based on the psychiatric symptomatology, the presence or absence of disturbance of consciousness, the EEG abnormalities, or the temporal relation between the symptoms and the seizures.

The effects of DCG-IV and L-CCG-1 upon phencyclidine (PCP)-induced locomotion and behavioral changes in mice.

The behavioral changes of mice induced by acute and repeated i.p. injection of phencyclidine (PCP) were observed by measuring locomotor activity and stereotyped behavior.

14-3-3 protein eta chain gene (YWHAH) polymorphism and its genetic association with schizophrenia.

Recent genetic analyses have suggested a linkage between schizophrenia and the chromosomal region 22q12-q13. 14-3-3 protein, abundant in the brain, mediates interactions between diverse molecules of biological activities; its gene was recently mapped to chromosome 22q12.1-q13.

[Cerebral embolism due to left atrial ball thrombus without mitral stenosis--usefulness of the transesophageal echocardiography for the diagnosis].

We reported two cases of cerebral embolism associated with atrial fibrillation. Left atrial ball thrombus without mitral stenosis was diagnosed by the transesophageal echocardiography, followed by successful removal. Left atrial ball thrombus has a risk for lethal complications, and a high incidence of systemic embolism even during anticoagulation therapy.

Quantitative study of intermediolateral column cell counts in Machado-Joseph disease.

The number of intermediolateral column (ILC) neurons in 6 alternating segments from the 2nd to 12th thoracic segment of the spinal cord were studied in 4 cases with Machado-Joseph disease (MJD), 3 cases with olivopontocerebellar atrophy (OPCA), a case with Shy-Drager syndrome (SDS), and 5 normal controls. We counted the number of ILC neurons with clearly defined nucleoli in 12 sections of each segment, each section 20 microns thick and taken at 100 microns intervals and then divided the 6 alternating segments into 3 groups, upper (Th2, 4), middle (Th6, 8) and lower (Th10, 12). In each of the three groups of normal control cases, the number of ILC neurons had decreased with aging.

[A case of myasthenia gravis associated with long-term phenytoin therapy].

A 22-year-old woman had been suffering from blepharoptosis and fatigabilities of both shoulders for a year. She had been administered phenytoin since age 4 to prevent febrile convulsion. On admission, she had bilateral blepharoptosis with left one being more severely affected.

Structural organization and chromosomal assignment of the human 14-3-3 eta chain gene (YWHAH).

14-3-3 protein, a brain-specific protein, is thought to be a multifunctional protein involved in the activation of tyrosine and tryptophan hydroxylases, the inhibition or activation of protein kinase C, and the activation of signal transduction. The human 14-3-3 eta chain gene was isolated and its structure was determined. It is composed of two exons separated by one long intron (approximately 8 kb) and spans about 10 kb.

A family with adult type ceroid lipofuscinosis (Kufs' disease) and heart muscle disease: report of two autopsy cases.

Two cases in a family with Kufs' disease had lethal arrhythmias and heart muscle disease. Autopsy findings showed an abundant accumulation of lipofuscin-like lipopigments in most neurons in the central nervous system (CNS). The heart showed a slight increase in the accumulation of the lipofuscin-like lipopigments in the myocardial fibers, slight to severe fibrosis and infiltration of fat cells in the myocardium.

Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): a new disease.

Seven patients with hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA) are presented. This is the first comprehensive evaluation of what is a unique disorder, half way between the cerebellar atrophies and the hereditary motor and sensory neuropathies. In addition to cerebellar ataxia and peripheral neuropathy, the most frequent features in HMSNCA were nystagmus, dysarthria, mental impairment and tremor.

The effect on methamphetamine on the mRNA level for 14.3.3 eta chain in the human cultured cells.

14.3.3 protein, a brain-specific protein, is an activator of tyrosine and tryptophan hydroxylases, key enzymes for biosynthesis of dopamine and serotonin.

[A case of "apraxia of eyelid opening" secondary to right hemisphere infarction--assessment of various symptoms of the eye and eyelid].

A 68-year-old right-handed woman showed "apraxia of eyelid opening" during an acute phase of hemorrhagic infarction in the right middle cerebral artery distribution. She showed paradoxical contraction of the bilateral orbicularis oculi muscles both against our order to open her eyes and even against her hand-movement to help her eyes open, although she could voluntarily open her eyes. She was diagnosed as "apraxia of eyelid opening".

Clinicopathological features of MERRF.

Clinical features of MERRF are varied in terms of patterns and severity of symptoms at the early stage. The age of onset differs even in the same family. Occasionally, ragged-red fibers are not found upon the muscle biopsy.