Clinical and Genetic Study of the First Japanese FTDP-17 Patient with a Mutation of +3 in Intron 10 in the MAPT Gene

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, whi...

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Autores principales: Nan, Haitian, Takaki, Ryusuke, Shimozono, Keisuke, Ichinose, Yuta, Koh, Kishin, Takiyama, Yoshihisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6746651/
https://www.ncbi.nlm.nih.gov/pubmed/30996196
http://dx.doi.org/10.2169/internalmedicine.2761-19
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author Nan, Haitian
Takaki, Ryusuke
Shimozono, Keisuke
Ichinose, Yuta
Koh, Kishin
Takiyama, Yoshihisa
author_facet Nan, Haitian
Takaki, Ryusuke
Shimozono, Keisuke
Ichinose, Yuta
Koh, Kishin
Takiyama, Yoshihisa
author_sort Nan, Haitian
collection PubMed
description 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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spelling pubmed-67466512019-09-17 Clinical and Genetic Study of the First Japanese FTDP-17 Patient with a Mutation of +3 in Intron 10 in the MAPT Gene Nan, Haitian Takaki, Ryusuke Shimozono, Keisuke Ichinose, Yuta Koh, Kishin Takiyama, Yoshihisa Intern Med Case Report 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. The Japanese Society of Internal Medicine 2019-04-17 2019-08-15 /pmc/articles/PMC6746651/ /pubmed/30996196 http://dx.doi.org/10.2169/internalmedicine.2761-19 Text en Copyright © 2019 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/ The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Nan, Haitian
Takaki, Ryusuke
Shimozono, Keisuke
Ichinose, Yuta
Koh, Kishin
Takiyama, Yoshihisa
Clinical and Genetic Study of the First Japanese FTDP-17 Patient with a Mutation of +3 in Intron 10 in the MAPT Gene
title Clinical and Genetic Study of the First Japanese FTDP-17 Patient with a Mutation of +3 in Intron 10 in the MAPT Gene
title_full Clinical and Genetic Study of the First Japanese FTDP-17 Patient with a Mutation of +3 in Intron 10 in the MAPT Gene
title_fullStr Clinical and Genetic Study of the First Japanese FTDP-17 Patient with a Mutation of +3 in Intron 10 in the MAPT Gene
title_full_unstemmed Clinical and Genetic Study of the First Japanese FTDP-17 Patient with a Mutation of +3 in Intron 10 in the MAPT Gene
title_short Clinical and Genetic Study of the First Japanese FTDP-17 Patient with a Mutation of +3 in Intron 10 in the MAPT Gene
title_sort clinical and genetic study of the first japanese ftdp-17 patient with a mutation of +3 in intron 10 in the mapt gene
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6746651/
https://www.ncbi.nlm.nih.gov/pubmed/30996196
http://dx.doi.org/10.2169/internalmedicine.2761-19
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