A family with a tau P301L mutation presenting with parkinsonism

Ruth H. Walker; Joseph Friedman; Jill Wiener; Ronald Hobler; Katrina Gwinn-Hardy; Amanda Adam; Jennifer DeWolfe; Rebecca Gibbs; Matt Baker; Matt Farrer; Mike Hutton; John Hardy

doi:10.1016/S1353-8020(02)00003-2

A family with a tau P301L mutation presenting with parkinsonism

Ruth H. Walker, Joseph Friedman, Jill Wiener, Ronald Hobler, Katrina Gwinn-Hardy, Amanda Adam, Jennifer DeWolfe, Rebecca Gibbs, Matt Baker, Matt Farrer, Mike Hutton, John Hardy

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

13 Scopus citations

Abstract

We report a sib-pair with a tau P301L mutation. Unlike most previous cases with this mutation, parkinsonism, rather than dementing features were the predominant and presenting feature. We have also observed that the P301L mutation has occurred on the H1 tau haplotype background. The haplotype background may influence the disease phenotype since in many previous Caucasian families with the P301L mutation, the haplotype background has been H2.

Original language	English
Pages (from-to)	121-123
Number of pages	3
Journal	Parkinsonism and Related Disorders
Volume	9
Issue number	2
DOIs	https://doi.org/10.1016/S1353-8020(02)00003-2
State	Published - Dec 2002

Keywords

Dementia
Genetics
Parkinsonism
Progressive supranuclear palsy
Tau

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title = "A family with a tau P301L mutation presenting with parkinsonism",

abstract = "We report a sib-pair with a tau P301L mutation. Unlike most previous cases with this mutation, parkinsonism, rather than dementing features were the predominant and presenting feature. We have also observed that the P301L mutation has occurred on the H1 tau haplotype background. The haplotype background may influence the disease phenotype since in many previous Caucasian families with the P301L mutation, the haplotype background has been H2.",

keywords = "Dementia, Genetics, Parkinsonism, Progressive supranuclear palsy, Tau",

author = "Walker, {Ruth H.} and Joseph Friedman and Jill Wiener and Ronald Hobler and Katrina Gwinn-Hardy and Amanda Adam and Jennifer DeWolfe and Rebecca Gibbs and Matt Baker and Matt Farrer and Mike Hutton and John Hardy",

note = "Funding Information: We thank the family for their enthusiasm for this work. This work was supported by an NIH/NIA Program Project Grant (MH, JH) and the Mayo Foundation.",

year = "2002",

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language = "English",

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T1 - A family with a tau P301L mutation presenting with parkinsonism

AU - Walker, Ruth H.

AU - Friedman, Joseph

AU - Wiener, Jill

AU - Hobler, Ronald

AU - Gwinn-Hardy, Katrina

AU - Adam, Amanda

AU - DeWolfe, Jennifer

AU - Gibbs, Rebecca

AU - Baker, Matt

AU - Farrer, Matt

AU - Hutton, Mike

AU - Hardy, John

N1 - Funding Information: We thank the family for their enthusiasm for this work. This work was supported by an NIH/NIA Program Project Grant (MH, JH) and the Mayo Foundation.

PY - 2002/12

Y1 - 2002/12

N2 - We report a sib-pair with a tau P301L mutation. Unlike most previous cases with this mutation, parkinsonism, rather than dementing features were the predominant and presenting feature. We have also observed that the P301L mutation has occurred on the H1 tau haplotype background. The haplotype background may influence the disease phenotype since in many previous Caucasian families with the P301L mutation, the haplotype background has been H2.

AB - We report a sib-pair with a tau P301L mutation. Unlike most previous cases with this mutation, parkinsonism, rather than dementing features were the predominant and presenting feature. We have also observed that the P301L mutation has occurred on the H1 tau haplotype background. The haplotype background may influence the disease phenotype since in many previous Caucasian families with the P301L mutation, the haplotype background has been H2.

KW - Dementia

KW - Genetics

KW - Parkinsonism

KW - Progressive supranuclear palsy

KW - Tau

UR - http://www.scopus.com/inward/record.url?scp=0036900772&partnerID=8YFLogxK

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DO - 10.1016/S1353-8020(02)00003-2

M3 - Article

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AN - SCOPUS:0036900772

SN - 1353-8020

VL - 9

SP - 121

EP - 123

JO - Parkinsonism and Related Disorders

JF - Parkinsonism and Related Disorders

IS - 2

ER -

A family with a tau P301L mutation presenting with parkinsonism

Abstract

Keywords

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