Cargando…
The Genetics of Monogenic Frontotemporal Dementia
Around 10-15% of patients diagnosed with frontotemporal dementia (FTD) have a positive family history for FTD with an autosomal dominant pattern of inheritance. Since the identification of mutations in MAPT (microtubule-associated protein tau gene) in 1998, over 10 other genes have been associated w...
Autor principal: | |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Associação de Neurologia Cognitiva e do
Comportamento
2015
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5619362/ https://www.ncbi.nlm.nih.gov/pubmed/29213965 http://dx.doi.org/10.1590/1980-57642015DN93000003 |
_version_ | 1783267386342768640 |
---|---|
author | Takada, Leonel T. |
author_facet | Takada, Leonel T. |
author_sort | Takada, Leonel T. |
collection | PubMed |
description | Around 10-15% of patients diagnosed with frontotemporal dementia (FTD) have a positive family history for FTD with an autosomal dominant pattern of inheritance. Since the identification of mutations in MAPT (microtubule-associated protein tau gene) in 1998, over 10 other genes have been associated with FTD spectrum disorders, discussed in this review. Along with MAPT, mutations in GRN (progranulin) and C9orf72 (chromosome 9 open reading frame 72) are the most commonly identified in FTD cohorts. The association of FTD and motor neuron disease (MND) can be caused by mutations in C9orf72 and other genes, such as TARDBP (TAR DNA-binding protein), FUS (fused in sarcoma), UBQLN2 (ubiquilin 2). Multisystem proteinopathy is a complex phenotype that includes FTD, Paget disease of the bone, inclusion body myopathy and MND, and can be due to mutations in VCP (valosing containing protein) and other recently identified genes. |
format | Online Article Text |
id | pubmed-5619362 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Associação de Neurologia Cognitiva e do
Comportamento |
record_format | MEDLINE/PubMed |
spelling | pubmed-56193622017-12-06 The Genetics of Monogenic Frontotemporal Dementia Takada, Leonel T. Dement Neuropsychol Views & Reviews Around 10-15% of patients diagnosed with frontotemporal dementia (FTD) have a positive family history for FTD with an autosomal dominant pattern of inheritance. Since the identification of mutations in MAPT (microtubule-associated protein tau gene) in 1998, over 10 other genes have been associated with FTD spectrum disorders, discussed in this review. Along with MAPT, mutations in GRN (progranulin) and C9orf72 (chromosome 9 open reading frame 72) are the most commonly identified in FTD cohorts. The association of FTD and motor neuron disease (MND) can be caused by mutations in C9orf72 and other genes, such as TARDBP (TAR DNA-binding protein), FUS (fused in sarcoma), UBQLN2 (ubiquilin 2). Multisystem proteinopathy is a complex phenotype that includes FTD, Paget disease of the bone, inclusion body myopathy and MND, and can be due to mutations in VCP (valosing containing protein) and other recently identified genes. Associação de Neurologia Cognitiva e do Comportamento 2015 /pmc/articles/PMC5619362/ /pubmed/29213965 http://dx.doi.org/10.1590/1980-57642015DN93000003 Text en http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Views & Reviews Takada, Leonel T. The Genetics of Monogenic Frontotemporal Dementia |
title | The Genetics of Monogenic Frontotemporal Dementia |
title_full | The Genetics of Monogenic Frontotemporal Dementia |
title_fullStr | The Genetics of Monogenic Frontotemporal Dementia |
title_full_unstemmed | The Genetics of Monogenic Frontotemporal Dementia |
title_short | The Genetics of Monogenic Frontotemporal Dementia |
title_sort | genetics of monogenic frontotemporal dementia |
topic | Views & Reviews |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5619362/ https://www.ncbi.nlm.nih.gov/pubmed/29213965 http://dx.doi.org/10.1590/1980-57642015DN93000003 |
work_keys_str_mv | AT takadaleonelt thegeneticsofmonogenicfrontotemporaldementia AT takadaleonelt geneticsofmonogenicfrontotemporaldementia |