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Masaaki Konagaya

Publications and source records attributed to Masaaki Konagaya.

At least 19 recordsLinked to original sources
PubMed2006

[Siblings with xeroderma pigmentosum group A showing mild cutaneous and various neurological manifestations].

We report siblings with xeroderma pigmentosum group A (XP-A) showing mild cutaneous and late-onset severe neurological manifestations. The elder brother first noticed unstability in walking at 16 years of age. Subsequently slowly progressive mental deterioration developed with cerebellar ataxia, spasticity, sensory disturbance, urinary dysfunction and vocal cord paralysis. His younger sister presented with dysarthria at 18 years of age. She showed manifestations similar to her brother's. Both of them suffered from sensitivity to the sun but no malignant skin tumor. They were diagnosed as XP-A by the measurement of unscheduled DNA synthesis and complementation analysis. Gene analyses revealed compound heterozygote for G-->C substitution at the 3' splicing acceptor site of intron 3 and insertion of 4 bases in exon 6 of XPA gene. It is suggested that transcription-coupled repair is dominantly affected with relative sparing of global genome repair in these siblings.

Atrophy↗
PubMed2006

[Two cases of Duchenne muscular dystrophy complicated with dilated cardiomyopathy and cerebral infarction].

We report two cases of Duchenne muscular dystrophy (DMD) complicated with dilated cardiomyopathy (DCM), who were affected with cerebral infarction. Case 1 suddenly developed dysarthria and right facial weakness at age 21. Cranial CT study disclosed a low density area in the left basal ganglia and internal capsule. Case 2 had a history of transient ischemic attack (TIA) at age 21. Five months after the TIA, he developed right hemiplegia and dysarthria, and a low density area in the corona radiate in left cerebral hemisphere was observed in cranial CT. These two cases showed the radiographic cardiomegaly with cardio thoracic ratio (CTR) of 72.8% and 66.6%, the decreased echocardiographic left ventricular ejection fraction below 20%, and the elevated titer of thrombin-anti-thrombin III complex (TAT) and D-dimer. The autopsy of Case 2 at age 26 disclosed the remarkable degeneration and fibrosis of myocardium and old ischemic lesion in the left cerebral frontal cortex. Despite the negative finding of the emboli in the left heart, cardiogenic cerebral infarction secondary to DCM was strongly suspected in both cases.

Adult↗
PubMed2006

[An autopsy case of long-course multiple system atrophy (MSA) with remarkable atrophy and numerous NCI in the temporal lobe].

The patient was 66 year-old man with no family history of neurological diseases. At age 51, he showed initial symptom of parkinsonism, and was revealed a cerebellar atrophy by CT at age 52. He was suffered from malignant syndrome followed by renal dysfunction, which needed hemodialysis therapy. At age 54, he admitted to our hospital, when he showed parkinsonism, ataxia and dysautonomia. Neuroimaging study disclosed typical findings of multiple system atrophy (MSA), and dilatation of inferior horn of the lateral ventricle. In the next year, he lost of amburatory function, and showed low cognitive function of 5 scores in HDSR. At age 57, he was tracheostomised because of complete paralysis of the vocal cord abductor muscles. MRI study disclosed marked temporal lobe atrophy. He was complicated with bladder carcinoma, and died of multiple organ failure at age 66. The brain weight was 1,115 g. Gross neuropathological findings were temporal lobe dominant cerebral atrophy and marked pontocerebellar atrophy. Meningitis and sepsis were seen in the cerebrum, and some infarctions in the temporal and frontal lobes. Besides the typical degenerative findings of MSA, remarkable temporal lobe atrophy with enlargement of the inferior horn of lateral ventricle was observed. There were numerous number of neuron containing neuronal inclusion body (NCI) in the hippocampal cortex, dentate fascia and parahippocampal gyrus. In spite of small amount of NFT in the parahippocampal gyrus, there were no se- nile plaque, tau-positive structure except NFT, argyrophilic grain or Pick body. This case was a long-survived MSA with remarkable atrophy of the temporal lobe. The characteristic neuropathological finding was numerous numbers of neurons containing NCI in the cotices arround the inferior horn. Although frontal lobe dominant cerebral lobe atrophy is common in the long-survived MSA cases, extreme temporal lobe atrophy is rare condition. There may be a MSA subtype strongly affecting temporal lobe with numerous NCI.

Aged↗
PubMed2005

Electron microscopic findings of cardiomyopathy with limb girdle muscular dystrophy.

Cardiac involvement in limb girdle muscular dystrophy has considered to be rare. This is the first report showing the electron microscopic findings of dilated cardiomyopathy (DCM) accompanied with limb girdle muscular dystrophy. The findings described in this report indicate that limb girdle muscular dystrophy may be yet another cause of DCM.

Cardiomyopathy, Dilated↗
PubMed2005

Autopsy case of hereditary spastic paraplegia with thin corpus callosum showing severe gliosis in the cerebral white matter.

We report an autopsy case of a 51-year-old man clinically diagnosed with a complicated type of hereditary spastic paraplegia. His sister showed similar manifestations. Gait disturbance was manifested at 14 years of age. Subsequently, slowly progressive spastic tetraplegia developed with mental deterioration, neuropathy and amyotrophy. Marked cerebral atrophy with thin corpus callosum was shown by cranial MRI. Autopsy revealed a severely atrophic brain with extreme thinning of the whole corpus callosum. Microscopically, neurodegeneration was found in the corticospinal tract, thalamus, cerebral white matter and substantia nigra, as well as in the anterior horn and posterior column of the spinal cord. The remaining neurons contained large amounts of lipofuscin and eosinophilic granules. Unique to this patient was the severe gliosis in the cerebral white matter and substantia nigra, suggesting that sufficient development had been established when the degenerative process occurred. The predominant feature of the present case is the neurodegeneration process rather than hypoplasia.

Autopsy↗
PubMed2005

[Effect of intermittent positive pressure ventilation on life-span and causes of death in Duchenne muscular dystrophy].

We have been introducing the intermittent positive pressure ventilation (IPPV) therapy in Duchenne muscular dystrophy (DMD) since 1990. Then, the changes of life-span and causes of mortality by IPPV were investigated in this study. The subjects were 157 patients of long-term followed up DMD in our hospital. The Kaplan-Meier's survival curve of 73 IPPV treated patients showed a median survival time of 31.0 years of age, whereas that of 20.4 years in 84 patients not treated by IPPV. The actual mean age of death in 29 IPPV treated patients was 25.68 +/- 5.18 years-old (M +/- SD), which was significantly higher than that in 74 patients with not-IPPV treated of 19.76 +/- 3.47. The IPPV treatment changed the major causes of death; 59.5% to 3.5% for respiratory failure, 12.2% to 37.9% for cardiac failure, and 0% to 10.3% for repiratory trouble. There were certain number of patients who died of repiratory infection, respiratory tract disorder, digestive organ disorders and sudden death. Thus, IPPV therapy is significantly effective for prolongation of life-span in DMD, and it seems to be necessary to establish the treatment strategy for cardiac failure and other potentially fatal complications.

Adult↗
PubMed2004

Clinical analysis of longstanding subacute myelo-optico-neuropathy: sequelae of clioquinol at 32 years after its ban.

One thousand and thirty-one longstanding patients with subacute myelo-optico-neuropathy (SMON; 275 males, 756 females; mean age +/- S.D., 72.9 +/- 9.6 years; age at onset 37.6 +/- 9.8 years; duration of illness 35.3 +/- 4.0 years) were examined in 2002, 32 years after banning of clioquinol. At onset, 66.7% of patients were unable to walk, and 4.7% complete blindness. At present time, about 41% of patients were still difficult to walk independently, including 15.8% of completely loss of locomotion. One point six percent of patients were in complete blindness and 5.8% had severe visual impairment. The majority (95.6 - 97.7%) of patients exhibited sensory disturbances including superficial and vibratory sensations and dysesthesia. Dysautonomia was observed as leg hypothermia in 79.8%, urinary incontinence in 60.7%, and bowel disturbance in 95.3%. As complication, high incidence was revealed with cataract (56.2%), hypertension (40.2%), vertebral disease (35.5%), and limb articular disease (31.5%). These results indicate the serious sequelae of clioquinol intoxication, SMON.

Aged↗
PubMed2004

Dilated cardiomyopathy in Kugelberg-Welander disease: coexisting sleep disordered breathing and its treatment with continuous positive airway pressure.

A rare complication of possible secondary dilated cardiomyopathy to Kugelberg-Welander disease was described in a 53-year-old patient with this inherent motor neuron disease, whom we diagnosed after a genetic analysis of the defective survival motor neuron gene. An association of sleep disordered breathing of Cheyne-Stokes respiration was diagnosed, which was virtually eliminated with continuous positive airway pressure via nasal mask. Considering the paucity of therapeutic options in most degenerative neuromuscular disorders, ameliorations in not only sleep quality but also cardiac function with continuous positive airway pressure have clinical implications.

Blood Gas Analysis↗
PubMed2004

[A patient with limb girdle muscular dystrophy type 2B (LGMD2B) manifesting cardiomyopathy].

A 57-year-old woman first noticed difficulty in walking at the age of 34 years, and since then muscle wasting and weakness in the lower limbs and proximal portion of the upper limbs had progressed slowly. Serum CK was elevated. Immunohistochemical study of the biceps brachii muscle showed deficiency of dysferlin in sarcolemma, and the dysferlin gene analysis disclosed 3370 G-->T missense mutation. These findings led us to diagnose her as LGMD2B. Moreover echocardiogram revealed ventricular enlargement and diffuse hypokinesia suggesting secondary cardiomyopathy atributable to muscular dystrophy. Careful cardiac monitoring should be carried out in dysferlinopathy patients.

Cardiomyopathies↗
PubMed2004

[Selective volitional respiration control loss (inverse Ondiene's curse syndrome) in amyotrophic lateral sclerosis].

We investigated neuro-respiratory function of a 60-year-old woman with a 7-year-history of amyotrophic lateral sclerosis. She was trachomized 4 years ago, however, spontaneous respiration had been observed. Plethysmography disclosed autonomous and abolished volitional control on breathing. Cough reflex and emotional laughing influenced on respiration pattern. Positive reaction of respiration to hypercapnia was observed. Then, it seemed to be preserved respiratory neurons in the medulla oblongata and bulbospinal tract, and remarkable impairement of the corticospinal tract.

Amyotrophic Lateral Sclerosis↗
PubMed2004

[Erythrocyte SOD].

Explore the source record for details and available documents.

Amyotrophic Lateral Sclerosis↗
PubMed2003

A clinical and pathological study of a Japanese case of Amyotrophic Lateral Sclerosis/Parkinsonism-Dementia Complex with family history.

This report concerns a Japanese family with neuropathological findings consistent with amyotrophic lateral sclerosis/parkinsonism-dementia complex (ALS/PDC) in the Island of Guam. The proband was a 68-year-old woman with an 8-year history of parkinsonism which was followed by psychiatric symptoms and neurogenic amyotrophy 5 years after the onset. She had a family history of parkinsonism associated with dementia in all of her three siblings. They grew up in the Hobara village, a focus of amyotrophic lateral sclerosis in the Kii Peninsula of Japan in their childhood. Their parents were not consanguineous nor natives of the Kii Peninsula. The brain weight was 1040 g and there were mild frontal lobe atrophy, moderate atrophy of pes hippocampi, decoloration of the substantia nigra and locus coeruleus, and atrophy of the anterior root of the spinal cord. The microscopic examinations revealed degeneration of CA1 portion of the hippocampus to the parahippocampus gyrus, substantia nigra, locus coeruleus and spinal anterior horn with Bunina bodies. The spinal pyramidal tracts also mildly degenerated. Neurofibrillary tangles (NFT) were observed in the cerebral cortex, especially in the cortices from hippocampus to lateral occipitotemporal gyri, basal nucleus of Mynert, basal ganglia, thalamus, substantia nigra and widespread regions of the central nervous system through the brainstem to spinal cord including the nucleus of Onufrowitcz. In spite of a small amount of the senile plaques in the cerebral cortex and Lewy bodies in the substantia nigra and locus coeruleus, abundant NFT were distributed mainly in the third layer of the cerebral cortex, which is the characteristic feature of ALS/PDC. Thus, this was likely to be an ALS/PDC case outside the Guam Island. A tau mutation was not found on DNA analysis.

Aged↗
PubMed2003

Familial amyotrophic lateral sclerosis and parkinsonism-dementia complex--tauopathy without mutations in the tau gene?

We present the clinical and genetic characteristics of a Japanese patient with neuropathologically confirmed familial amyotrophic lateral sclerosis/parkinsonism dementia complex (ALS/PDC). The 68-year-old proband with an 8-year history of parkinsonism and neurogenic amyotrophy and her three siblings suffering from parkinsonism associated with dementia originated from the Kii Peninsula of Japan. The proband's brain exhibited mild frontal lobe atrophy, moderate atrophy of the pes hippocampi, decoloration of the substantia nigra and locus coerules, and atrophy of the anterior root of the spinal cord. Microscopic examinations revealed degeneration of the CA1 portion of the hippocampus to the parahippocampus gyrus, substantia nigra, locus coerules and the spinal anterior horn with Bunina bodies. Neurofibrillary tangles (NFTs) were observed in widespread regions of the central nervous system through the cerebral cortex to the spinal cord. The predominant distribution of NFTs in the the third layer of the cerebral cortex was compatible with the characteristic feature of ALS/PDC in Guam. No tau mutation was found in the proband. The lack of mutations in the tau gene not only in this patient but also in earlier reported cases of ALS in the Western Pacific seems to suggest that other genetic factors may be contributing to ALS/PDC.

Aged↗
PubMed2002

Clinico-pathological study of a case of familial parkinsonism with striatal degeneration.

The clinico-pathological study of a new type of familial parkinsonism with striatal degeneration is reported. The inheritance mode was autosomal recessive, and three out of four offspring of married cousins developed parkinsonism in their early adulthood. Their clinical signs were rigidity, bradykinesia, postural instability and dysarthria. These symptoms were slowly progressive and responsive to levodopa therapy to a variable degree. On cerebral magnetic resonance imaging, T2 and proton density-weighted images showed hyperintensity in the bilateral putamina. The neuropathological study of one case revealed atrophy of the bilateral putamina and caudate nuclei, and a severe neuronal loss and gliosis in the putamina. Patchy mosaicism of normal and degenerated tissue was observed in the putamina. A similar mode of the degeneration was mildly seen in the caudate nuclei. The substantia nigra showed atrophy of the pars reticulata, and mild to moderate neuronal loss of the pars compacta with rostral dominance, but no Lewy bodies were observed. These neuropathological findings differed from those of Parkinson's disease or juvenile parkinsonism, but mimic to those of X-linked dystonia parkinsonism (Lubag). It seems that this familial bilateral striatal degeneration is a new variant of familial parkinsonism.

Adolescent↗
PubMed2002

Progressive cerebral atrophy in multiple system atrophy.

Nine patients with multiple system atrophy (MSA) were studied based on MRI findings of cerebral hemispheric involvement. The age at onset was 56.4+/-8.6 (mean+/-S.D.) years, duration of illness at the first MRI study 2.1+/-1.1 years, duration of illness at the last study 9.7+/-2.6 years, and the follow-up duration 7.6+/-2.3 years. Controls were 85 neurologically intact persons (60.2+/-11.1 years age). In the MRI study, measurements of the ratio of each area to the intracranial area were performed for the cerebral hemisphere, frontal, temporal and parietal-occipital lobes. A significant progression of atrophy to under the normal limit was observed in the cerebrum, frontal and temporal lobes. Besides the typical pathological lesions in MSA, five autopsied patients revealed frontal lobe atrophy with mild gliosis, mild demyelination and glial cytoplasmic inclusions (GCIs). One of these patients showed remarkable frontal lobe atrophy with degenerative changes in the cerebral cortex. We observed the involvement of the cerebral hemisphere, especially the frontal lobe.

Age of Onset↗
PubMed2002

[Analysis of SMON at 30 years after its outbreak ending: special reference to those patients with blindness].

We analysed the present state of those SMON patients with severely disturbed visual acuity. In medical screening of SMON Research Group at 1999, 52 out of 1,083 patients and 549 out of 1128 had their histories of complete blindness and complete loss of locomotion ability at the onset of SMON, respectively. Eighty one out of 1,149 patients showed severe visual impairment, including 22 with complete blindness. The number of patients with complete loss of locomotion and that of gait with cane/assistance were 59 and 443, respectively. Then, a large number of SMON patients have been still suffering from sequelae of clioquinol intoxication. Those patients groups with blindness and severe visual acuity yet showed after 30 years more severe disorders in locomotive activity, muscle strength and spasticity of lower extremities, degree of dysesthesia as well as vibratory sensory deficit, and ADL score. Those patients with complete or near complete blindness were profoundly handicapped so that the ratio of patients with a life-long institutionalization was high compared to the groups with less severe visual disturbance. Thus, it seems necessary to make a more extensive and meticulous supports for those SMON patients with blindness as they are in need of more finance and care providers.

Adult↗