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CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study
TLDR
CHCHD2 mutations are associated with, and might be a cause of, autosomal dominant Parkinson's disease, and further functional studies are needed to understand how mutant CHCHD 2 might play a part in the pathophysiology of Parkinson's Disease. Expand
Translation initiator EIF4G1 mutations in familial Parkinson disease.
TLDR
Genome-wide analysis of a multi-incident family with autosomal-dominant parkinsonism has implicated a locus on chromosomal region 3q26-q28 and highlighted a convergent pathway for monogenic, toxin and perhaps virally-induced Parkinson disease. Expand
Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease.
TLDR
These two newly identified Japanese patients with S NCA duplication and the five previously identified American and European families with SNCA triplication or duplication mutations indicate that the incidence of SNCC multiplication may be more frequent than previously estimated. Expand
Expanding the clinical phenotype of SNCA duplication carriers
TLDR
Even a carrier of SNCA duplication may escape the development of PD, asymptomatic carriers displayed normal test results with the eldest individual aged 79 years, and this difference in age‐associated penetrance may be due to the genetic background or environmental exposures. Expand
Prognosis of Parkinson's disease: Time to stage III, IV, V, and to motor fluctuations
TLDR
The data suggest that the disease progression may be slightly faster for women, and young‐onset patients showed significantly longer duration to reach Stage III, IV, and V but shorter duration to develop wearing off and dyskinesia. Expand
Clinical heterogeneity of α‐synuclein gene duplication in Parkinson's disease
TLDR
The objective of this study was to assess the frequency of SNCA multiplications among autosomal dominant hereditary Parkinson's disease (ADPD) patients. Expand
LRRK2 knockout mice have an intact dopaminergic system but display alterations in exploratory and motor co-ordination behaviors
TLDR
It is confirmed that loss of LRRK2 caused degeneration in the kidney, accompanied by a progressive enhancement of autophagic activity and accumulation of autofluorescent material, but without evidence of biphasic changes. Expand
An Epidemiologic Internet Survey of Fibromyalgia and Chronic Pain in Japan
TLDR
To determine the epidemiologic features and symptom characteristics of fibromyalgia (FM) in Japan, and compare them with those for other chronic pain (CP) diagnoses, a large number of patients are diagnosed with FM. Expand
Genomic investigation of α‐synuclein multiplication and parkinsonism
TLDR
Five families with parkinsonism that have been identified to harbor multiplication of the chromosomal 4q21 locus containing the α‐synuclein gene (SNCA) are characterized. Expand
CLINICOPATHOLOGIC STUDY OF A SNCA GENE DUPLICATION PATIENT WITH PARKINSON DISEASE AND DEMENTIA
TLDR
Findings indicate that SNCA duplication also causes PD with dementia (PDD), and three copies of the locus S NCA-MMRN1 were identified in the two duplication families. Expand
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