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S Riku

Publications and source records attributed to S Riku.

At least 19 recordsLinked to original sources
PubMed1998

Somatic mosaicism of the expanded CAG trinucleotide repeat in mRNAs for the responsible gene of Machado-Joseph disease (MJD), dentatorubral-pallidoluysian atrophy (DRPLA), and spinal and bulbar muscular atrophy (SBMA).

The CAG trinucleotide repeats in mRNAs for the responsible genes of Machado-Joseph disease (MJD), dentatorubral-pallidoluysian atrophy (DRPLA), and X-linked spinal and bulbal muscular atrophy (SBMA) were examined in various neural and nonneural tissues of affected individuals. The tissue-specific variation of expanded CAG repeat alleles were apparent for mRNAs of all three genes. The expanded CAG repeats of the mRNA were shorter in the cerebellum than in other regions of the central nervous system in DRPLA and MJD, but not in SBMA, and were longer in the liver and colon in MJD. Transcripts of the responsible genes with expanded CAG repeats were detected in all tissues studied, and the tissue-specific variation in the CAG repeat size of the mRNA did not correlate with the tissue-specific severity of pathological involvement in these diseases.

Adult↗
PubMed1996

Differential pattern in tissue-specific somatic mosaicism of expanded CAG trinucleotide repeats in dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and X-linked recessive spinal and bulbar muscular atrophy.

We investigated the somatic mosaicism of trinucleotide repeat expansion in the neural and nonneural tissues of a dentatorubral-pallidoluysian atrophy (DRPLA), Machado-Joseph disease (MJD), and spinal and bulbar muscular atrophy (SBMA) patient and their correlation to the topographical distribution of the pathological involvement. The spatial pattern of tissue-specific somatic mosaicism in the CAG repeat size was significantly different among the DRPLA, MJD and SBMA patients. The size of the major bands of the mutant CAG repeat allele was significantly smaller in the cerebellar cortex in both DRPLA and MJD patients by 6 and 2 repeat units respectively and larger in the colon and liver of DRPLA by 5 repeats or more. There were also 1-2 repeat-sized small variations of major band size among the neural tissues in DRPLA. In contrast, there was no tissue-specific variation of major bands of CAG repeats and diversity of extra bands among the examined tissues including the cerebellum in the SBMA patient. There was no parallel occurrence of tissue-specific CAG instability and severity of neuropathological involvement in the neural and nonneural tissues of DRPLA, MJD and SBMA patients. Lack of significant tissue-specific somatic mosaicism in SBMA including the cerebellar cortex may suggest that CAG repeat expansion in the mutant androgen receptor gene is far more stable compared with that in DRPLA and MJD as well as those reported in Huntington's disease.

Adult↗
PubMed1995

[Multiple system atrophy (MSA)].

The clinical and pathological features of 47 cases of multiple system atrophy (MSA) were analyzed. The mean age of onset was 56.7 (range 40 to approximately 76) years and mean survival was 5.7 (range 1.5 to approximately 12) years. Parkinsonism occurred in 31 cases. Helpful early points to the diagnosis included rigid-akinetic type, rapid progression, failure to respond to L-DOPA and other signs such as autoromic dysfunction, cerebellar ataxia and pyramidal signs, but these were not always present. T2 weighted MR images demonstrated decreased signal in the putamen and/or slit-hyperintensity in the outer margin of the putamen. These clinical and MRI findings are useful in the differential diagnosis between Parkinson's disease and MSA. Glial cytoplasmic inclusions (GCIs) were found in all 21 cases, but not in control brains. Several types of neuroral inclusion were also observed; large neuroral cytoplasmic, small neuroral cytoplasmic and nuclear inclusions. GCIs were labeled by antiubiquitin, anti-alpha and beta-tubulin and antitau antibodies. Large neuronal cytoplasmic inclusions (NCIs) observed in the pontine nuclei were positive with only antiubiquitin antibody.

Adult↗
PubMed1994

Cerebrospinal fluid levels of superoxide dismutases in neurological diseases detected by sensitive enzyme immunoassays.

We measured cerebrospinal fluid (CSF) levels of Cu/Zn superoxide dismutase (Cu/Zn SOD) and Mn superoxide dismutase (Mn SOD) using enzyme immunoassays in 196 neurological patients and 44 controls. The mean Cu/Zn SOD level was 55.8 +/- 27.6 (SD) ng/ml and the Mn SOD, 8.0 +/- 2.5 ng/ml in the controls. Cu/Zn SOD or Mn SOD levels showed neither age-nor sex-related differences in the controls. Both SODs were markedly elevated in cerebrovascular diseases, bacterial meningitis and encephalitis. Mn SOD alone was significantly elevated in neurodegenerative diseases. We compared SODs with CSF levels of neuron-specific enolase (NSE) and S-100b protein (S-100b) in cerebral infarction and bacterial meningitis. Both SODs were correlated with NSE and S-100b in patients with cerebral infarction, but not in those with bacterial meningitis. This means that elevations of SODs in CSF may not only be due to leakage from damaged nervous tissues, but also to the induction of SOD in lesions. We conclude that the mean SOD levels were elevated in various neurological diseases, and their varied magnitudes may be associated with the underlying diseases.

Adolescent↗
PubMed1994

Prognostic value of cerebrospinal fluid neuron-specific enolase and S-100b protein in Guillain-Barré syndrome.

We measured the cerebrospinal fluid (CSF) concentrations of neuron-specific enolase (NSE) and S-100b protein (S-100b) using enzyme immunoassay methods, in 24 patients with Guillain-Barré syndrome and 46 controls, and examined their prognostic values. Sixteen of 24 patients showed elevated levels (> the mean + 2SD levels of controls) of NSE, S-100b, or both, and in those with higher NSE or S-100b levels there was a rather longer duration of disease, whereas 8 patients with the normal levels showed an early recovery. Further, NSE or S-100b levels were significantly correlated with months to recovery. Thus, NSE and S-100b in CSF may be useful markers for predicting the outcome of Guillain-Barré syndrome.

Adolescent↗
PubMed1992

[A case of "syndrome of progressive muscle spasm, alopecia, and diarrhea (Satoyoshi)" treated with steroid pulse therapy].

A 20-year-old man was admitted to our hospital because of generalized muscle cramp with pain. At the age of 12 years, he began to have painful muscle cramps in calf muscles, which gradually extended to all limb and truncal muscles and became more severe and frequent. He also had diarrhea and mild hair loss. On admission he had mild baldness, left shoulder deformity, and hypertrophic muscles. Muscle cramps were observed especially in the extremities. Routine laboratory studies revealed moderately high serum CK and low IgG levels. He had been treated with several muscle relaxants and antiepileptic drugs, but with no favorable effect. During his admission he received high-dose intravenous methylprednisone of 1000 mg/day for three days, followed by oral prednisolone tapered over 4 weeks. Soon after the initiation of the treatment, painful muscle cramps were gradually decreased and his activity of daily life apparently improved. In conclusion steroid pulse therapy is a useful treatment for patients who are not responsive to dantrolene sodium administration, and the effectiveness suggests that a certain autoimmune mechanism plays a role in pathogenetic mechanism.

Adult↗
PubMed1992

[An autopsy case of chronic inflammatory demyelinating polyradiculoneuropathy with sever degeneration in the posterior column].

An autopsy case of chronic inflammatory demyelinating polyradiculoneuropathy was reported. It took a progressive course and terminated fatally in eight years. A 41-year-old man noticed motor disturbances when he tried to lift a bath pail and to write on July, 1978. Neurological examination revealed proximal dominant muscle atrophy, weakness of all extremities, and moderately diminished tendon reflex. Sensation was normal. The CSF showed albumin cytologic dissociations. Electromyogram showed neurogenic changes. Histological examination of biopsy specimen obtained from the anterior tibial muscle revealed severe neurogenic changes and showed axonal degeneration on the ventral tibial nerve. The treatment by corticosteroids was not effective, and the disease gradually progressed with repeated improvements and exacerbations. Three years after the onset, he showed vesicorectal dysfunctions. He died of respiratory failure on May, 1986. Neuropathological examination showed severe degeneration of middle root zones in the posterior columns, loss of myelinated fibers in Clarke's columns, demyelination and mild loss of axons accompanied by lymphocytic infiltration in the spinal roots, especially in the anterior roots. The histogram of cervical ventral root, ventral and dorsal roots of thoracic and lumbar regions revealed a decreased number of large myelinated fibers. A characteristic finding of this case was the dissociation of clinical features and neuropathological findings; the clinical features showed a typical motor neuropathy, but neuropathological examination showed severe degeneration on posterior columns of spinal cord like a sensory-ataxic neuropathy. Our observation suggest that the pathway which originates from posterior ganglion cells and runs into Clarke's columns passes through the middle root zones, since severe demyelination in Clarke's columns was observed.

Adult↗
PubMed1992

[Cerebrospinal fluid neuron-specific enolase (NSE) and S-100b protein in Guillain-Barré syndrome--their relations to prognosis].

We measured the cerebrospinal fluid (CSF) levels of neuron-specific enolase (NSE) and S-100b protein (S-100b) using enzyme immunoassay methods in 12 patients with Guillain-Barré syndrome (GBS), and 46 control subjects, and evaluated their clinical values in relation to prognosis. The 4 patients with the remarkably elevated level of NSE or S-100b in the acute stage recovered slowly over 1 year after onset, while the 2 patients showed the normal NSE and S-100b levels and recovered within 4 months. In 6 patients, the NSE and/or S-100b were slightly or moderately increased in the acute stage. They recovered from 1.5 to 11 months after onset, and the two patients showing very early recovery have the remarkably increase of S-100b in the recovery stage. These results suggest that CSF NSE and S-100b may be useful biochemical markers for estimation of prognosis in GBS patients.

Adolescent↗
PubMed1992

[A case of herpes zoster associated with multiple cranial nerve involvement].

A 74-year-old man who had suffered from right herpes zoster ophthalmicus developed ipsilateral multiple cranial nerve involvement two weeks later. He showed right visual disturbance, total ophthalmoplegia and peripheral facial palsy. Pleocytosis and increased protein were found in CSF. Titer of VZV antibody increased in serum and CSF. CT and MRI demonstrated no abnormal findings in the brain stem. Within a month, peripheral facial palsy improved. Severe extra-ophthalmoplegia began to improve after three months, and moderately recovered. After two and a half year, visual disturbance and mydriasis showed no improvement. In this case, we speculate that localized leptomeningitis caused multiple cranial nerve involvement.

Aged↗
PubMed1987

Serum creatine kinase isoenzymes in Duchenne muscular dystrophy determined by sensitive enzyme immunoassay methods.

Serum levels of creatine kinase (CK) isoenzymes (MM, MB, and BB) were measured by sensitive enzyme immunoassay (EIA) methods in 50 patients with Duchenne muscular dystrophy (DMD) and in 39 controls. MM, MB, and BB levels in DMD patients were higher than in controls, and these three levels decreased with advancing age of DMD patients. Serum MB levels showed a good correlation with serum levels of carbonic anhydrase III (CA-III), but correlated poorly with electrocardiographic findings, suggesting that the main origin of serum MB in DMD is skeletal muscle rather than cardiac muscle.

Adolescent↗
PubMed1985

Serum carbonic anhydrase III in progressive muscular dystrophy.

Serum carbonic anhydrase III (CA-III) levels were determined by means of an enzyme immunoassay method and compared with serum creatine kinase (CK) and muscle-specific enolase (MSE) levels in 143 patients with four types of progressive muscular dystrophy (PMD), namely, Duchenne muscular dystrophy (DMD), limb-girdle dystrophy, facioscapulohumeral dystrophy and congenital dystrophy. Serum CA-III levels were raised in the majority of patients, especially in those with DMD. In DMD patients, the gradual decline in the CA-III level was observed with age. High correlations were found between CA-III, CK and MSE levels. The frequency of cases with elevated CA-III levels was the same as or greater than that of elevated CK or MSE levels in four types of PMD. These results suggest that serum CA-III may be a useful marker of muscle disease.

Adolescent↗
PubMed1984

Serum muscle-specific enolase in progressive muscular dystrophy and other neuromuscular diseases.

Serum muscle-specific enolase ( MSE , beta beta and alpha beta enolases) levels were determined in 162 patients with progressive muscular dystrophy (PMD) and other neuromuscular diseases by means of an enzyme immunoassay method. The relationships were examined between serum MSE , creatine kinase (CK) and other markers of muscle disease. Serum MSE was strikingly increased in Duchenne muscular dystrophy, and this elevation was more prominent in younger patients. Serum MSE was also increased in other types of PMD and certain other diseases. Serum MSE showed the highest correlation with CK. In the PMD group, the frequency of cases with elevated MSE was the same as in CK. These results indicated that serum MSE may well be a specific marker of muscle disease on a par with CK.

Adolescent↗