A5102751259- Genetic Neurodegenerative Diseases
- Parkinson's Disease Mechanisms and Treatments
- Mitochondrial Function and Pathology
- Neurological disorders and treatments
- Amyotrophic Lateral Sclerosis Research
- Multiple Sclerosis Research Studies
- Neurological diseases and metabolism
- Peripheral Neuropathies and Disorders
- RNA regulation and disease
- Autoimmune Neurological Disorders and Treatments
- Hereditary Neurological Disorders
- T-cell and B-cell Immunology
- Alzheimer's disease research and treatments
- Botulinum Toxin and Related Neurological Disorders
- Neurogenetic and Muscular Disorders Research
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Metabolism and Genetic Disorders
- MicroRNA in disease regulation
- RNA Research and Splicing
- Neurological and metabolic disorders
- Prion Diseases and Protein Misfolding
- Myasthenia Gravis and Thymoma
- Ubiquitin and proteasome pathways
- DNA Repair Mechanisms
- Sarcoidosis and Beryllium Toxicity Research
Hokkaido University
2015-2024
Hakodate Central General Hospital
2020-2024
Chiba University Hospital
2024
Sasaki Institute
2017-2018
Hokkaido University Hospital
2008-2017
Neurology, Inc
2011
Sanin Rosai Hospital
2008
Nagasaki University
2007
University of Maryland, College Park
2007
T4tech (Italy)
2007
Multiple-system atrophy is an intractable neurodegenerative disease characterized by autonomic failure in addition to various combinations of parkinsonism, cerebellar ataxia, and pyramidal dysfunction. Although multiple-system widely considered be a nongenetic disorder, we previously identified multiplex families with this disease, which indicates the involvement genetic components.
Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease, which leads to the loss of upper and lower motor neurons, with currently unknown etiology. Specific biomarkers could help in early detection diagnosis, also act as indicators disease progression therapy effectiveness. MicroRNAs (miRNAs) are small (18-25 nucleotides), single-stranded non-coding RNA molecules that play important regulatory roles animals plants by targeting mRNAs for cleavage or translational repression,...
Glucocerebrosidase gene (GBA) variants that cause Gaucher disease are associated with Parkinson (PD) and dementia Lewy bodies (DLB). To investigate the role of GBA in multiple system atrophy (MSA), we analyzed a large case-control series.We sequenced coding regions flanking splice sites 969 MSA patients (574 Japanese, 223 European, 172 North American) 1509 control subjects (900 315 294 American). We focused solely on Gaucher-disease-causing variants.In Japanese series, found nine carriers...
Proximal tremors are often refractory to nucleus ventrointermedius thalami thalamotomy. Subthalamotomy has been suggested be effective for treatment of tremor, although this procedure is associated with considerable adverse effects, and rarely considered a suitable modality. The authors demonstrate the efficacy safety subthalamic deep brain stimulation in two patients, one severe, proximal essential tremor dystonia.
Abstract We measured the concentrations of glutamate, asparate, and γ‐aminobutyrate (GABA) in cortical subcortical areas by an enzymatic fluorometric method 9 patients with histologically verified Alzheimer's disease senile dementia Alzheimer type (AD/SDAT), 10 age‐matched normal control subjects. When compared controls, concentration glutamate AD/SDAT brains was significantly reduced. The aspartate GABA were also reduced several areas, but magnitude reduction less than that glutamate. This...
MicroRNAs (miRNAs) are endogenous small (18–25 nt), single-stranded, non-coding RNAs that play key roles in post-transcriptional gene expression regulation. The profiles of miRNAs biofluids and tissues change various diseases. Multiple system atrophy (MSA) Parkinson's disease (PD) both categorized as α-synucleinopathies often present with similar clinical manifestations. This study aimed to identify differently expressed plasma samples PD patients, MSA healthy controls. We used microarray...
We previously discovered spinocerebellar ataxia type 14 (SCA14) in a single Japanese family with an autosomal dominant neurodegenerative disorder characterized by cerebellar and intermittent axial myoclonus. The latter manifestation is selectively observed patients early onset. mapped the locus to chromosome 19q13.4-qter, but etiologic gene was not known. Recently, mutation protein kinase C gamma (PRKCG) identified US of English Dutch ancestry SCA whose disease region overlapping that SCA14...
A decrease in intracellular glutathione content may be related to the primary event Parkinson's disease, so increasing level have a therapeutic benefit. The biologically active form of vitamin D, 1,25-dihydroxyvitamin D3 [1,25-(OH)2D3] has been recently reported enhance concentration central nervous system. Exposing rat cultured mesencephalic neurons for 24 hr mixture L-buthionine sulfoximine (BSO) and 1-methyl-4-phenylpyridium ions (MPP+) resulted relatively selective damage dopaminergic...
Patients with Parkinson's disease often have urine storage symptoms, such as urinary urgency, frequency and incontinence, which are induced by detrusor overactivity. However, little is known of the mechanisms inducing overactivity in this disease. We previously examined human brain response to bladder filling healthy male volunteers using positron emission tomography. hypothesized that activation patterns would be different patients disease.Nine were catheterized via urethra for intravesical...
Machado-Joseph disease (MJD) is an autosomal dominant multisystem neurodegenerative disorder caused by unstable expansion of a CAG repeat in the MJD1 gene at 14q432.1. To identify elements affecting intergenerational instability repeat, we investigated whether CGG/GGG polymorphism 3′ end affects repeat. The [expanded (CAG)n-CGG]/[normal (CAG)n-GGG] haplotypes were found to result significantly greater compared (CAG)n-CGG] or (CAG)nGGG]/[normal haplotypes. Multiple stepwise logistic...