Shigeru Koyano
A5079090371- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Neurological disorders and treatments
- Parkinson's Disease Mechanisms and Treatments
- Amyotrophic Lateral Sclerosis Research
- Neurological diseases and metabolism
- RNA regulation and disease
- Botulinum Toxin and Related Neurological Disorders
- Hereditary Neurological Disorders
- Visual perception and processing mechanisms
- Multiple Sclerosis Research Studies
- DNA Repair Mechanisms
- Peripheral Neuropathies and Disorders
- Neural dynamics and brain function
- CNS Lymphoma Diagnosis and Treatment
- Metabolism and Genetic Disorders
- Neural and Behavioral Psychology Studies
- Voice and Speech Disorders
- Moyamoya disease diagnosis and treatment
- Neurogenetic and Muscular Disorders Research
- Ophthalmology and Eye Disorders
- Nuclear Receptors and Signaling
- Genetics and Neurodevelopmental Disorders
- Cerebrovascular and genetic disorders
- Alzheimer's disease research and treatments
Yokohama City University
2014-2024
Yokohama Minami Kyosai Hospital
2017-2023
Tokyo Metropolitan Institute of Medical Science
1999-2022
Yokohama City University Hospital
2010-2011
Fuchu Hospital
2001
Kanagawa Rehabilitation Hospital
1996-2000
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.
RNF213 was recently reported as a susceptibility gene for moyamoya disease (MMD). Our aim to clarify the correlation between genotype and MMD phenotype.The entire coding region of sequenced in 204 patients with MMD, corresponding variants were checked 62 pairs parents, 13 mothers 4 fathers patients, 283 normal controls. Clinical information collected. Genotype-phenotype correlations statistically analyzed.The c.14576G>A variant identified 95.1% familial 79.2% sporadic 1.8% controls, thus...
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...
Only a few prospective studies have determined which clinical symptoms and factors are associated with the disease severity of spinocerebellar ataxia type 6 (SCA6). A multicenter longitudinal cohort study was conducted to clarify both natural history SCA6 in Japan influencing progression. Patients were consecutively recruited between 2007 2008. Scores from Scale for Assessment Rating Ataxia (SARA) Barthel Index (BI) collected prospectively each year. Additionally, data intractable diseases...
Abstract Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) is a late-onset, slow-progressing multisystem neurodegenerative disorder. Biallelic AAGGG repeat expansion in RFC1 has been identified as causative of this disease, and conformation heterogeneity (ACAGG repeat) was also recently implied. To molecularly characterize disease Japanese patients with adult-onset we accumulated screened 212 candidate families by an integrated approach consisting flanking PCR,...
AIM:To reveal the frequency, characteristics and prognosis of chronic intestinal pseudo-obstruction (CIP) in mitochondrial disease patients. METHODS:Between January 2000 December 2010, 31 patients (13 males 18 females) were di-agnosed with diseases at our hospital.We conducted a retrospective review patients' sex, subclass disease, age onset frequency CIP its onset, duration survival.The or first diagnosis disorder that led to clinical suspicion was also examined. RESULTS:Twenty...
Degeneration of cerebellar cortex is one the principal features hereditary ataxias linked to expansion CAG repeat. In an attempt clarify possible correlation between neuronal depletion and intranuclear inclusions, both triggered by pathological repeat, sections from SCA1, SCA2, SCA3, DRPLA cases were immunostained with anti-ubiquitin or anti-expanded polyglutamine antibody (1C2) screened for presence inclusions. Although degree degeneration varied greatly, Purkinje cells uniformly...
Leukoencephalopathies encompass all clinical syndromes that predominantly affect brain white matter. Genetic diagnosis informs management of these patients, but a large part the genetic contribution to adult leukoencephalopathy remains unresolved. To examine this contribution, we analyzed genomic DNA from 60 Japanese patients with unknown cause by next generation sequencing using custom-designed gene panel. We selected 55 leukoencephalopathy-related genes for identified pathogenic mutations...
Abstract To elucidate the molecular basis of multiple system atrophy (MSA), a neurodegenerative disease, we conducted genome-wide association study (GWAS) in Japanese MSA case/control series followed by replication studies Japanese, Korean, Chinese, European and North American samples. In GWAS stage rs2303744 on chromosome 19 showed suggestive ( P = 6.5 × 10 −7 ) that was replicated additional samples 2.9 −6 . OR 1.58; 95% confidence interval, 1.30 to 1.91), then confirmed as highly...
Spinocerebellar ataxia type 2 (SCA2) is a hereditary neurodegenerative disorder caused by the expansion of trinucleotide CAG repeats encoding elongated polyglutamine tract in ataxin-2, SCA2 gene product. Polyglutamine diseases comprise nine genetic entities, including seven different forms spinocerebellar ataxias, Huntington's disease, and spinal bulbar muscular atrophy. These are pathologically characterized neuronal loss intranuclear aggregates or inclusions mutant proteins expanded...