Novel PINK1 mutations in early-onset parkinsonism

Yasuko Hatano; Yuanzhe Li; Kenichi Sato; Shuichi Asakawa; Yasuhiro Yamamura; Hiroyuki Tomiyama; Hiroyo Yoshino; Masato Asahina; Susumu Kobayashi; Sharon Hassin-Baer; Chin Song Lu; Arlene R. Ng; Raymond L. Rosales; Nobuyoshi Shimizu; Tatsushi Toda; Yoshikuni Mizuno; Nobutaka Hattori

doi:10.1002/ana.20251

Novel PINK1 mutations in early-onset parkinsonism

Yasuko Hatano, Yuanzhe Li, Kenichi Sato, Shuichi Asakawa, Yasuhiro Yamamura, Hiroyuki Tomiyama, Hiroyo Yoshino, Masato Asahina, Susumu Kobayashi, Sharon Hassin-Baer, Chin Song Lu, Arlene R. Ng, Raymond L. Rosales, Nobuyoshi Shimizu, Tatsushi Toda, Yoshikuni Mizuno, Nobutaka Hattori^*

^*Corresponding author for this work

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

246 Scopus citations

Abstract

PINK1 was recently found to be associated with PARK6 as the causative gene. We performed mutation analysis in eight inbred families whose haplotypes link to the PARK6 region. We identified six pathogenic mutations (R246X, H271Q, E417G, L347P, and Q239X/R492X) in six unrelated families. All sites of mutations were novel, suggesting that PINK1 may be the second most common causative gene next to parkin in parkinsonism with the recessive mode of inheritance.

Original language	English
Pages (from-to)	424-427
Number of pages	4
Journal	Annals of Neurology
Volume	56
Issue number	3
DOIs	https://doi.org/10.1002/ana.20251
State	Published - 09 2004
Externally published	Yes

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title = "Novel PINK1 mutations in early-onset parkinsonism",

abstract = "PINK1 was recently found to be associated with PARK6 as the causative gene. We performed mutation analysis in eight inbred families whose haplotypes link to the PARK6 region. We identified six pathogenic mutations (R246X, H271Q, E417G, L347P, and Q239X/R492X) in six unrelated families. All sites of mutations were novel, suggesting that PINK1 may be the second most common causative gene next to parkin in parkinsonism with the recessive mode of inheritance.",

author = "Yasuko Hatano and Yuanzhe Li and Kenichi Sato and Shuichi Asakawa and Yasuhiro Yamamura and Hiroyuki Tomiyama and Hiroyo Yoshino and Masato Asahina and Susumu Kobayashi and Sharon Hassin-Baer and Lu, {Chin Song} and Ng, {Arlene R.} and Rosales, {Raymond L.} and Nobuyoshi Shimizu and Tatsushi Toda and Yoshikuni Mizuno and Nobutaka Hattori",

year = "2004",

month = sep,

doi = "10.1002/ana.20251",

language = "英语",

volume = "56",

pages = "424--427",

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issn = "0364-5134",

publisher = "John Wiley & Sons Inc.",

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TY - JOUR

T1 - Novel PINK1 mutations in early-onset parkinsonism

AU - Hatano, Yasuko

AU - Li, Yuanzhe

AU - Sato, Kenichi

AU - Asakawa, Shuichi

AU - Yamamura, Yasuhiro

AU - Tomiyama, Hiroyuki

AU - Yoshino, Hiroyo

AU - Asahina, Masato

AU - Kobayashi, Susumu

AU - Hassin-Baer, Sharon

AU - Lu, Chin Song

AU - Ng, Arlene R.

AU - Rosales, Raymond L.

AU - Shimizu, Nobuyoshi

AU - Toda, Tatsushi

AU - Mizuno, Yoshikuni

AU - Hattori, Nobutaka

PY - 2004/9

Y1 - 2004/9

N2 - PINK1 was recently found to be associated with PARK6 as the causative gene. We performed mutation analysis in eight inbred families whose haplotypes link to the PARK6 region. We identified six pathogenic mutations (R246X, H271Q, E417G, L347P, and Q239X/R492X) in six unrelated families. All sites of mutations were novel, suggesting that PINK1 may be the second most common causative gene next to parkin in parkinsonism with the recessive mode of inheritance.

AB - PINK1 was recently found to be associated with PARK6 as the causative gene. We performed mutation analysis in eight inbred families whose haplotypes link to the PARK6 region. We identified six pathogenic mutations (R246X, H271Q, E417G, L347P, and Q239X/R492X) in six unrelated families. All sites of mutations were novel, suggesting that PINK1 may be the second most common causative gene next to parkin in parkinsonism with the recessive mode of inheritance.

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U2 - 10.1002/ana.20251

DO - 10.1002/ana.20251

M3 - 文章

C2 - 15349870

AN - SCOPUS:4444237208

SN - 0364-5134

VL - 56

SP - 424

EP - 427

JO - Annals of Neurology

JF - Annals of Neurology

IS - 3

ER -

Novel PINK1 mutations in early-onset parkinsonism

Abstract

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