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Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)

Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) is an autosomal dominant neurodegenerative disorder, which has three cardinal features: behavioral and personality changes, cognitive impairment, and motor symptoms. FTDP-17 was defined during the International Consensus Conf...

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Autores principales: Wszolek, Zbigniew K, Tsuboi, Yoshio, Ghetti, Bernardino, Pickering-Brown, Stuart, Baba, Yasuhiko, Cheshire, William P
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2006
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1563447/
https://www.ncbi.nlm.nih.gov/pubmed/16899117
http://dx.doi.org/10.1186/1750-1172-1-30
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author Wszolek, Zbigniew K
Tsuboi, Yoshio
Ghetti, Bernardino
Pickering-Brown, Stuart
Baba, Yasuhiko
Cheshire, William P
author_facet Wszolek, Zbigniew K
Tsuboi, Yoshio
Ghetti, Bernardino
Pickering-Brown, Stuart
Baba, Yasuhiko
Cheshire, William P
author_sort Wszolek, Zbigniew K
collection PubMed
description Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) is an autosomal dominant neurodegenerative disorder, which has three cardinal features: behavioral and personality changes, cognitive impairment, and motor symptoms. FTDP-17 was defined during the International Consensus Conference in Ann Arbor, Michigan, in 1996. The prevalence and incidence remain unknown but FTDP-17 is an extremely rare condition. It is caused by mutations in the tau gene, which encodes a microtubule-binding protein. Over 100 families with 38 different mutations in the tau gene have been identified worldwide. The phenotype of FTDP-17 varies not only between families carrying different mutations but also between and within families carrying the same mutations. The pathogenetic mechanisms underlying the disorder are thought to be related to the altered proportion of tau isoforms or to the ability of tau to bind microtubules and to promote microtubule assembly. Definitive diagnosis of FTDP-17 requires a combination of characteristic clinical and pathological features and molecular genetic analysis. Genetic counseling should be offered to affected and at-risk individuals; for most subtypes, penetrance is incomplete. Currently, treatment for FTDP-17 is only symptomatic and supportive. The prognosis and rate of the disease's progression vary considerably among individual patients and genetic kindreds, ranging from life expectancies of several months to several years, and, in exceptional cases, as long as two decades.
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spelling pubmed-15634472006-09-09 Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) Wszolek, Zbigniew K Tsuboi, Yoshio Ghetti, Bernardino Pickering-Brown, Stuart Baba, Yasuhiko Cheshire, William P Orphanet J Rare Dis Review Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) is an autosomal dominant neurodegenerative disorder, which has three cardinal features: behavioral and personality changes, cognitive impairment, and motor symptoms. FTDP-17 was defined during the International Consensus Conference in Ann Arbor, Michigan, in 1996. The prevalence and incidence remain unknown but FTDP-17 is an extremely rare condition. It is caused by mutations in the tau gene, which encodes a microtubule-binding protein. Over 100 families with 38 different mutations in the tau gene have been identified worldwide. The phenotype of FTDP-17 varies not only between families carrying different mutations but also between and within families carrying the same mutations. The pathogenetic mechanisms underlying the disorder are thought to be related to the altered proportion of tau isoforms or to the ability of tau to bind microtubules and to promote microtubule assembly. Definitive diagnosis of FTDP-17 requires a combination of characteristic clinical and pathological features and molecular genetic analysis. Genetic counseling should be offered to affected and at-risk individuals; for most subtypes, penetrance is incomplete. Currently, treatment for FTDP-17 is only symptomatic and supportive. The prognosis and rate of the disease's progression vary considerably among individual patients and genetic kindreds, ranging from life expectancies of several months to several years, and, in exceptional cases, as long as two decades. BioMed Central 2006-08-09 /pmc/articles/PMC1563447/ /pubmed/16899117 http://dx.doi.org/10.1186/1750-1172-1-30 Text en Copyright © 2006 Wszolek et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( (http://creativecommons.org/licenses/by/2.0) ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Review
Wszolek, Zbigniew K
Tsuboi, Yoshio
Ghetti, Bernardino
Pickering-Brown, Stuart
Baba, Yasuhiko
Cheshire, William P
Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)
title Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)
title_full Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)
title_fullStr Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)
title_full_unstemmed Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)
title_short Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)
title_sort frontotemporal dementia and parkinsonism linked to chromosome 17 (ftdp-17)
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1563447/
https://www.ncbi.nlm.nih.gov/pubmed/16899117
http://dx.doi.org/10.1186/1750-1172-1-30
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