期刊
INTERNAL MEDICINE
卷 58, 期 16, 页码 2397-2400出版社
JAPAN SOC INTERNAL MEDICINE
DOI: 10.2169/internalmedicine.2761-19
关键词
FTDP-17; MAPT; IVS10+3G > A mutation; non-Caucasian; H1M haplotype
资金
- Research Committee for Ataxic Disease
- Ministry of Health, Labor and Welfare, Japan
- JSPS KAKENHI from the Ministry of Education, Culture, Sports, Science and Technology, Japan [JP17K17772, JP18K07495]
Frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) with mutations in the MAPT gene is a hereditary neurodegenerative tauopathy with various clinical phenotypes. We herein report the first Japanese patient with FTDP-17 caused by an IVS10+3G>A mutation in the MAPT gene, which is linked to an H1M haplotype. The present study suggests that the IVS10+3G>A mutation in the MAPT gene can have originated from a non-Caucasian population. In the disease course, myoclonus and respiratory failure can be observed. This study may expand on the clinical and genetic findings for FTDP-17 with mutations in the MAPT gene.
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