Search Results - "ADACHI, Yoshiki"
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First Japanese autopsy case showing LRRK2 mutation G2019S and TDP-43 proteinopathy
Published in Parkinsonism & related disorders (01-10-2021)“…This is the first Japanese autopsy case of Leucine-rich repeat kinase 2 (LRRK2) G2019S mutation with atypical TDP43 proteinopathy. Our case is important that…”
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An autopsy case of PARK2 due to a homozygous exon 2 deletion of parkin and associated with α‐synucleinopathy
Published in Neuropathology (01-08-2021)“…Lewy bodies (LBs) are usually detected in patients with idiopathic Parkinson's disease (PD), but there have been few reports of LBs in a familial form of…”
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3
The First Case of Spinocerebellar Ataxia Type 8 in Monozygotic Twins
Published in Internal Medicine (15-01-2020)“…Spinocerebellar ataxia type 8 (SCA8) is a rare hereditary cerebellar ataxia showing mainly pure cerebellar ataxia. We herein report cases of SCA8 in Japanese…”
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4
Cognitive and behavioral status in Japanese ALS patients: a multicenter study
Published in Journal of neurology (01-05-2020)“…Objectives Amyotrophic lateral sclerosis (ALS) patients may present with cognitive and behavioral abnormalities similar to frontotemporal dementia (FTD). In…”
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A 3-year cohort study of the natural history of spinocerebellar ataxia type 6 in Japan
Published in Orphanet journal of rare diseases (23-07-2014)“…Only a few prospective studies have determined which clinical symptoms and factors are associated with the disease severity of spinocerebellar ataxia type 6…”
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6
Hemiconvulsion-Hemiplegia-Epilepsy Syndrome Associated With CACNA1A S218L Mutation
Published in Pediatric neurology (01-09-2011)“…Abstract Hemiconvulsion-hemiplegia-epilepsy syndrome involves sudden and prolonged unilateral seizures, followed by transient or permanent hemiplegia and…”
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7
Autopsy case of spinocerebellar ataxia type 31 with severe dementia at the terminal stage
Published in Neuropathology (01-06-2015)“…Spinocerebellar ataxia type 31 (SCA31) is an autosomal dominant cerebellar ataxia commonly observed in Japan. However, few neuropathological examinations have…”
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Repeated Encephalopathy and Hemicerebral Atrophy in a Patient with Familial Hemiplegic Migraine Type 1
Published in Internal Medicine (01-01-2014)“…We herein describe a case of a 38-year-old man with familial hemiplegic migraine with a T666M mutation in the electrical potential-dependent calcium ion…”
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9
ALS-Parkinsonism-Dementia complex of Kii and other related diseases in Japan
Published in Parkinsonism & related disorders (2012)“…Summary The ALS/parkinsonism-dementia complex (PDC) of Kii is an endemic disease with a diverse phenotypic expression characteristic of classical ALS,…”
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10
Japanese version of the ALS-FTD-questionnaire (ALS-FTD-Q-J)
Published in Journal of the neurological sciences (15-08-2016)“…Abstract Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) share common clinical, genetic and neuropathological features. Some ALS patients…”
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11
Population-Based Door-to-Door Survey of Migraine in Japan: The Daisen Study
Published in Headache (01-01-2004)“…Objectives.—To determine prevalence and characteristics of migraine in Japan, and to investigate use of medical care and whether food preference is associated…”
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12
Leber's Hereditary Optic Neuropathy with Olivocerebellar Degeneration due to G11778A and T3394C Mutations in the Mitochondrial DNA
Published in Journal of clinical neurology (Seoul, Korea) (01-09-2012)“…Leber's hereditary optic neuropathy (LHON) is a mitochondrial disorder with optic nerve atrophy. Although there are no other associated neurological…”
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13
Prevalence of dementia in the rural island town of Ama-cho, Japan
Published in Neuroepidemiology (01-02-2009)“…With the striking increase in the number of elderly people in Japan, dementia has not only become a medical but also a social issue. We studied the prevalence…”
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Prevalence of progressive supranuclear palsy in Yonago, Japan
Published in Movement disorders (01-10-2004)“…There have been few reports of the prevalence of progressive supranuclear palsy (PSP): the present study examines its prevalence in Japan and compares the…”
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15
Birt-Hogg-Dubé syndrome with repeated pneumothorax; report of a case
Published in Kyobu geka. The Japanese journal of thoracic surgery (01-09-2014)“…A 36-year-old man had been treated by thoracoscopic bullectomy because of left pneumothorax at another hospital. 2 weeks post-surgery, he was transferred to…”
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An Unusual Case of Elderly-Onset Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) With Multiple Cerebrovascular Risk Factors
Published in Journal of stroke and cerebrovascular diseases (01-02-2012)“…Here we report a female patient with elderly-onset cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). At age…”
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Cerebrospinal fluid tau in dementia disorders: a large scale multicenter study by a Japanese study group
Published in Neurobiology of aging (01-05-2002)“…A large scale multicenter study of cerebrospinal fluid (CSF) tau levels was conducted to determine the cut-off value, sensitivity and specificity for clinical…”
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18
Longitudinal changes in the prevalence of dementia in a Japanese rural area
Published in Psychogeriatrics (01-12-2007)“…Background: The increasing number of patients with dementia in Japan, together with the rapid aging of society, is currently considered to have a substantial…”
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Genetic Analysis of Vascular Factors in Alzheimer's Disease
Published in Annals of the New York Academy of Sciences (01-11-2002)“…: Genetic risk factors for Alzheimer's disease (AD) have been extensively examined. Several risk factors for AD are shared with vascular dementia (VaD). We…”
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An epidemiological genetic study of Charcot-Marie-Tooth disease in Western Japan
Published in Neuroepidemiology (01-09-2002)“…We identify the prevalence and genetic features of Charcot-Marie-Tooth disease (CMT) in Yonago and Sakaiminato, western Japan. From information in registered…”
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