A5055041398- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- RNA Research and Splicing
- Avian ecology and behavior
- Parkinson's Disease Mechanisms and Treatments
- Peripheral Neuropathies and Disorders
- Plant and animal studies
- RNA regulation and disease
- Genetics and Neurodevelopmental Disorders
- Pacific and Southeast Asian Studies
- Multiple Sclerosis Research Studies
- Amyotrophic Lateral Sclerosis Research
- DNA Repair Mechanisms
- Wildlife Ecology and Conservation
- Ion channel regulation and function
- Metabolism and Genetic Disorders
- Neurological and metabolic disorders
- Neurological disorders and treatments
- Ubiquitin and proteasome pathways
- RNA and protein synthesis mechanisms
- Connexins and lens biology
- Primate Behavior and Ecology
- Neurological diseases and metabolism
- Neurogenetic and Muscular Disorders Research
- Hereditary Neurological Disorders
Hospital for Sick Children
2020-2023
Japan Weather Association (Japan)
2020-2022
SickKids Foundation
2022
Tokyo Medical and Dental University
2009-2021
Rikkyo University
2013-2020
Museum and Institute of Zoology
2013-2015
Polish Academy of Sciences
2013-2015
Yokohama Municipal Minato Red Cross Hospital
2011
Centre National de la Recherche Scientifique
2011
Assistance Publique – Hôpitaux de Paris
2011
IMPORTANCEAlthough mutations in 26 causative genes have been identified the spinocerebellar ataxias (SCAs), a substantial number of families with SCA remain unidentified.OBJECTIVE To identify gene 2 Japanese distinct neurological symptoms and radiological presentations. DESIGN, SETTING, AND PARTICIPANTSClinical genetic study at referral center 11 members from families, which started 1997. MAIN OUTCOMES MEASURESResults examinations evaluations.The mutation was using genome-wide linkage...
<h3>Objective</h3> Spinocerebellar ataxia 36 (SCA36) is an autosomal-dominant neurodegenerative disorder caused by a large (>650) hexanucleotide GGCCTG repeat expansion in the first intron of <i>NOP56</i> gene. The aim this study to clarify prevalence, clinical and genetic features SCA36. <h3>Methods</h3> was tested 676 unrelated SCA index cases 727 controls from France, Germany Japan. Clinical neuropathological were investigated available family members. <h3>Results</h3> Normal alleles...
Spinocerebellar ataxia type 31 ( SCA31 ) is an autosomal‐dominant cerebellar showing a Purkinje cell PC )‐predominant neurodegeneration in humans. The mutation complex penta‐nucleotide repeat containing TGGAA n , TAGAA TAAAA and TAGAATAAAA inserted intron shared by two different genes BEAN1 TK2 located the long arm of human chromosome 16. Previous studies have shown that critical component pathogenesis while three other repeats, also present normal Japanese, are not essential. Importantly,...
Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant neurodegenerative disease caused by a small polyglutamine (polyQ) expansion (control: 4-20Q; SCA6: 20-33Q) in the carboxyl(C)-terminal cytoplasmic domain of alpha(1A) voltage-dependent calcium channel (Ca(v)2.1). Although 75-85-kDa Ca(v)2.1 C-terminal fragment (CTF) toxic cultured cells, its existence human brains and role SCA6 pathogenesis remains unknown. Here, we investigated whether polyQ alters expression pattern...
Spinocerebellar ataxia type 31 (SCA31) was recently discovered to be caused by 2.5- 3.8-kb-long complex pentanucleotide repeats containing (TGGAA)n, (TAGAA)n, and (TAAAA)n in an intronic region shared 2 different genes, BEAN (brain expressed, associated with Nedd4) TK2 (thymidine kinase 2), chromosome 16q22.1.1,2 Among the 3 repeats, (TGGAA)n only one which large segregated phenotype, suggesting its importance pathogenesis.2 SCA31 is considered of a growing number neuromuscular diseases...
Spinocerebellar ataxia type 6 (SCA6) is an autosomal‐dominant neurodegenerative disorder caused by a small expansion of tri‐nucleotide (CAG) repeat encoding polyglutamine (polyQ) in the gene for α 1A voltage‐dependent calcium channel (Ca v 2.1). Thus, this disease one nine disorders called polyQ diseases. The Purkinje cell predominant neuronal loss characteristic neuropathology SCA6, and 75‐kDa carboxy‐terminal fragment (CTF) Ca 2.1 containing polyQ, which remains soluble normal brains,...
Acute transverse myelitis (ATM) has been described as an uncommon complication of vaccinations and is rarely accompanied by inflammatory peripheral neuropathy. We report a case 77-year-old woman who developed ATM acute motor axonal neuropathy (AMAN) following against seasonal 2009 A/H1N1 influenza. She manifested ophthalmoplegia, quadriparesis sensory impairment. MR imaging showed longitudinally-extensive spinal cord lesion, nerve conduction study revealed polyneuropathy. Despite prompt...
The human α1A voltage-dependent calcium channel (Cav2.1) is a pore-forming essential subunit embedded in the plasma membrane. Its cytoplasmic carboxyl(C)-tail contains small poly-glutamine (Q) tract, whose length normally 4∼19 Q, but when expanded up to 20∼33Q, tract causes an autosomal-dominant neurodegenerative disorder, spinocerebellar ataxia type 6 (SCA6). A recent study has shown that 75-kDa C-terminal fragment (CTF) containing polyQ remains soluble normal brains, becomes insoluble...
Apart from a few well-studied examples, there is little information regarding the life history and ecological requirements of brood parasites their hosts in most cuckoo–host systems, particularly tropical areas. In New Caledonia, Fan-tailed Gerygone flavolateralis, exclusive host Shining Bronze-cuckoo, Chalcites lucidus. Here, arms race has escalated to nestling stage, both parasite have polymorphic (difference skin coloration) nestlings. This novel system for study parasitism, but very...
Predation and brood parasitism are common reasons for nesting failure in passerine species the additive impact by invasive is a major conservation concern, particularly on tropical islands. Recognising relative contribution of different components rates important to understand co‐evolutionary interactions within parasite–host systems. In remote archipelago New Caledonia, fan‐tailed gerygone Gerygone flavolateralis exclusive host brood‐parasitic shining bronze‐cuckoo Chalcites lucidus ....