The Effect of tau genotype on clinical features in FTDP-17

Yasuhiko Baba; Yoshio Tsuboi; Matthew C. Baker; Ryan J. Uitti; Michael L. Hutton; Dennis W. Dickson; Matthew Farrer; John D. Putzke; Bryan K. Woodruff; Bernardino Ghetti; Jill R. Murrell; Bradley F. Boeve; Ronald C. Petersen; Patrice Verpillat; Alexis Brice; Marie Bernadette Delisle; Oliver Rascol; Kunimasa Arima; Maurice W. Dysken; Minoru Yasuda; Tomonori Kobayashi; Nobuhiko Sunohara; Osamu Komure; Sadako Kuno; Anne D. Sperfeld; Gabriela Stoppe; Jürgen Kohlhase; Stuart Pickering-Brown; David Neary; Orso Bugiani; Zbigniew K. Wszolek

doi:10.1016/j.parkreldis.2005.01.003

The Effect of tau genotype on clinical features in FTDP-17

Yasuhiko Baba, Yoshio Tsuboi, Matthew C. Baker, Ryan J. Uitti, Michael L. Hutton, Dennis W. Dickson, Matthew Farrer, John D. Putzke, Bryan K. Woodruff, Bernardino Ghetti, Jill R. Murrell, Bradley F. Boeve, Ronald C. Petersen, Patrice Verpillat, Alexis Brice, Marie Bernadette Delisle, Oliver Rascol, Kunimasa Arima, Maurice W. Dysken, Minoru YasudaTomonori Kobayashi, Nobuhiko Sunohara, Osamu Komure, Sadako Kuno, Anne D. Sperfeld, Gabriela Stoppe, Jürgen Kohlhase, Stuart Pickering-Brown, David Neary, Orso Bugiani, Zbigniew K. Wszolek

The University of Manchester

Research output: Contribution to journal › Article › peer-review

Abstract

The clinical phenotype of frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) varies. This variability is seen not only between kindreds with different mutations but also in families sharing the same mutation. Inheritance of tau haplotype (H1) and genotype (H1/H1) has been established as a risk factor for some neurodegenerative disorders with parkinsonism. We assessed the effect of tau polymorphism on the clinical features of FTDP-17 in 61 cases from 30 separately ascertained families with four different tau mutations, including P301L, +16, N279K, and P301S. There were no significant differences of age at symptomatic onset and disease duration between H1/H1 and H1/H2 genotypes. The comparison between tau genotype and type of initial clinical sign showed an association between the H1/H1 genotype and parkinsonian phenotype and between the H1/H2 genotype and frontotemporal dementia phenotype (OR=11.7; 95% confidence interval, 1.4-98.7; P=0.008). Our results suggest that tau genotype does not influence the disease course. However, it may predispose to a specific clinical sign in the early stage of FTDP-17. © 2005 Elsevier Ltd. All rights reserved.

Original language	English
Pages (from-to)	205-208
Number of pages	3
Journal	Parkinsonism and Related Disorders
Volume	11
Issue number	4
DOIs	https://doi.org/10.1016/j.parkreldis.2005.01.003
Publication status	Published - Jun 2005

Keywords

Chromosome 17 (FTDP-17)
Clinical feature
Frontotemporal dementia
Parkinsonism
tau genotype

Research Beacons, Institutes and Platforms

Dementia@Manchester

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10.1016/j.parkreldis.2005.01.003

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Baba, Y., Tsuboi, Y., Baker, M. C., Uitti, R. J., Hutton, M. L., Dickson, D. W., Farrer, M., Putzke, J. D., Woodruff, B. K., Ghetti, B., Murrell, J. R., Boeve, B. F., Petersen, R. C., Verpillat, P., Brice, A., Delisle, M. B., Rascol, O., Arima, K., Dysken, M. W., ... Wszolek, Z. K. (2005). The Effect of tau genotype on clinical features in FTDP-17. Parkinsonism and Related Disorders, 11(4), 205-208. https://doi.org/10.1016/j.parkreldis.2005.01.003

@article{1794106af0db41569f9393adedfc3a9c,

title = "The Effect of tau genotype on clinical features in FTDP-17",

abstract = "The clinical phenotype of frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) varies. This variability is seen not only between kindreds with different mutations but also in families sharing the same mutation. Inheritance of tau haplotype (H1) and genotype (H1/H1) has been established as a risk factor for some neurodegenerative disorders with parkinsonism. We assessed the effect of tau polymorphism on the clinical features of FTDP-17 in 61 cases from 30 separately ascertained families with four different tau mutations, including P301L, +16, N279K, and P301S. There were no significant differences of age at symptomatic onset and disease duration between H1/H1 and H1/H2 genotypes. The comparison between tau genotype and type of initial clinical sign showed an association between the H1/H1 genotype and parkinsonian phenotype and between the H1/H2 genotype and frontotemporal dementia phenotype (OR=11.7; 95% confidence interval, 1.4-98.7; P=0.008). Our results suggest that tau genotype does not influence the disease course. However, it may predispose to a specific clinical sign in the early stage of FTDP-17. {\textcopyright} 2005 Elsevier Ltd. All rights reserved.",

keywords = "Chromosome 17 (FTDP-17), Clinical feature, Frontotemporal dementia, Parkinsonism, tau genotype",

author = "Yasuhiko Baba and Yoshio Tsuboi and Baker, {Matthew C.} and Uitti, {Ryan J.} and Hutton, {Michael L.} and Dickson, {Dennis W.} and Matthew Farrer and Putzke, {John D.} and Woodruff, {Bryan K.} and Bernardino Ghetti and Murrell, {Jill R.} and Boeve, {Bradley F.} and Petersen, {Ronald C.} and Patrice Verpillat and Alexis Brice and Delisle, {Marie Bernadette} and Oliver Rascol and Kunimasa Arima and Dysken, {Maurice W.} and Minoru Yasuda and Tomonori Kobayashi and Nobuhiko Sunohara and Osamu Komure and Sadako Kuno and Sperfeld, {Anne D.} and Gabriela Stoppe and J{\"u}rgen Kohlhase and Stuart Pickering-Brown and David Neary and Orso Bugiani and Wszolek, {Zbigniew K.}",

year = "2005",

month = jun,

doi = "10.1016/j.parkreldis.2005.01.003",

language = "English",

volume = "11",

pages = "205--208",

journal = "Parkinsonism and Related Disorders",

issn = "1353-8020",

publisher = "Elsevier BV",

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Baba, Y, Tsuboi, Y, Baker, MC, Uitti, RJ, Hutton, ML, Dickson, DW, Farrer, M, Putzke, JD, Woodruff, BK, Ghetti, B, Murrell, JR, Boeve, BF, Petersen, RC, Verpillat, P, Brice, A, Delisle, MB, Rascol, O, Arima, K, Dysken, MW, Yasuda, M, Kobayashi, T, Sunohara, N, Komure, O, Kuno, S, Sperfeld, AD, Stoppe, G, Kohlhase, J, Pickering-Brown, S, Neary, D, Bugiani, O & Wszolek, ZK 2005, 'The Effect of tau genotype on clinical features in FTDP-17', Parkinsonism and Related Disorders, vol. 11, no. 4, pp. 205-208. https://doi.org/10.1016/j.parkreldis.2005.01.003

TY - JOUR

T1 - The Effect of tau genotype on clinical features in FTDP-17

AU - Baba, Yasuhiko

AU - Tsuboi, Yoshio

AU - Baker, Matthew C.

AU - Uitti, Ryan J.

AU - Hutton, Michael L.

AU - Dickson, Dennis W.

AU - Farrer, Matthew

AU - Putzke, John D.

AU - Woodruff, Bryan K.

AU - Ghetti, Bernardino

AU - Murrell, Jill R.

AU - Boeve, Bradley F.

AU - Petersen, Ronald C.

AU - Verpillat, Patrice

AU - Brice, Alexis

AU - Delisle, Marie Bernadette

AU - Rascol, Oliver

AU - Arima, Kunimasa

AU - Dysken, Maurice W.

AU - Yasuda, Minoru

AU - Kobayashi, Tomonori

AU - Sunohara, Nobuhiko

AU - Komure, Osamu

AU - Kuno, Sadako

AU - Sperfeld, Anne D.

AU - Stoppe, Gabriela

AU - Kohlhase, Jürgen

AU - Pickering-Brown, Stuart

AU - Neary, David

AU - Bugiani, Orso

AU - Wszolek, Zbigniew K.

PY - 2005/6

Y1 - 2005/6

N2 - The clinical phenotype of frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) varies. This variability is seen not only between kindreds with different mutations but also in families sharing the same mutation. Inheritance of tau haplotype (H1) and genotype (H1/H1) has been established as a risk factor for some neurodegenerative disorders with parkinsonism. We assessed the effect of tau polymorphism on the clinical features of FTDP-17 in 61 cases from 30 separately ascertained families with four different tau mutations, including P301L, +16, N279K, and P301S. There were no significant differences of age at symptomatic onset and disease duration between H1/H1 and H1/H2 genotypes. The comparison between tau genotype and type of initial clinical sign showed an association between the H1/H1 genotype and parkinsonian phenotype and between the H1/H2 genotype and frontotemporal dementia phenotype (OR=11.7; 95% confidence interval, 1.4-98.7; P=0.008). Our results suggest that tau genotype does not influence the disease course. However, it may predispose to a specific clinical sign in the early stage of FTDP-17. © 2005 Elsevier Ltd. All rights reserved.

AB - The clinical phenotype of frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17) varies. This variability is seen not only between kindreds with different mutations but also in families sharing the same mutation. Inheritance of tau haplotype (H1) and genotype (H1/H1) has been established as a risk factor for some neurodegenerative disorders with parkinsonism. We assessed the effect of tau polymorphism on the clinical features of FTDP-17 in 61 cases from 30 separately ascertained families with four different tau mutations, including P301L, +16, N279K, and P301S. There were no significant differences of age at symptomatic onset and disease duration between H1/H1 and H1/H2 genotypes. The comparison between tau genotype and type of initial clinical sign showed an association between the H1/H1 genotype and parkinsonian phenotype and between the H1/H2 genotype and frontotemporal dementia phenotype (OR=11.7; 95% confidence interval, 1.4-98.7; P=0.008). Our results suggest that tau genotype does not influence the disease course. However, it may predispose to a specific clinical sign in the early stage of FTDP-17. © 2005 Elsevier Ltd. All rights reserved.

KW - Chromosome 17 (FTDP-17)

KW - Clinical feature

KW - Frontotemporal dementia

KW - Parkinsonism

KW - tau genotype

U2 - 10.1016/j.parkreldis.2005.01.003

DO - 10.1016/j.parkreldis.2005.01.003

M3 - Article

SN - 1353-8020

VL - 11

SP - 205

EP - 208

JO - Parkinsonism and Related Disorders

JF - Parkinsonism and Related Disorders

IS - 4

ER -

The Effect of tau genotype on clinical features in FTDP-17

Abstract

Keywords

Research Beacons, Institutes and Platforms

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