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Mutations associated with copy number variation in neurological disorders

Research Project

Project/Area Number 21200041
Research Category

Grant-in-Aid for Scientific Research on Innovative Areas (Research a proposed research project)

Allocation TypeSingle-year Grants
Research Field Neurology
基礎ゲノム科学
Research InstitutionNiigata University

Principal Investigator

IKEUCHI Takeshi  新潟大学, 研究推進機構, 准教授 (20372469)

Co-Investigator(Renkei-kenkyūsha) KUWANO Ryozo  新潟大学, 脳研究所, 教授 (20111734)
Project Period (FY) 2009 – 2011
Project Status Completed (Fiscal Year 2011)
Budget Amount *help
¥29,900,000 (Direct Cost: ¥23,000,000、Indirect Cost: ¥6,900,000)
Fiscal Year 2011: ¥9,490,000 (Direct Cost: ¥7,300,000、Indirect Cost: ¥2,190,000)
Fiscal Year 2010: ¥9,750,000 (Direct Cost: ¥7,500,000、Indirect Cost: ¥2,250,000)
Fiscal Year 2009: ¥10,660,000 (Direct Cost: ¥8,200,000、Indirect Cost: ¥2,460,000)
Keywords神経疾患 / 遺伝子コピー数 / アルツハイマー病 / 遺伝性神経疾患 / 遺伝子同定 / ゲノムワイド解析 / 候補遺伝子アプローチ / 遺伝性精神疾患
Research Abstract

It has been demonstrated that a number of regions in human genome shows copy number variation. Some of them are apparently associated with disease conditions. In this study, we performed genome-wide survey to detect CNVs associated with disease condition using samples from familial cases with neurological disorders with unknown etiology. This analysis revealed that there are several regions with CNV in normal controls. In addition, we also found apparently pathogenic CNV in familial case with dementia.

Report

(4 results)
  • 2011 Annual Research Report   Final Research Report ( PDF )
  • 2010 Annual Research Report
  • 2009 Annual Research Report
  • Research Products

    (43 results)

All 2013 2012 2011 2010 2009 Other

All Journal Article (24 results) (of which Peer Reviewed: 24 results) Presentation (15 results) Book (4 results)

  • [Journal Article] Autosomal dominant tauopathy with parkinsonism and central hypoventilation2012

    • Author(s)
      Omoto M, Suzuki S, Ikeuchi T, Ishihara T, Kobayashi T, Tsuboi Y, Ogasawara J, Koga M, Kawai M, Iwaki T, Kanda T
    • Journal Title

      Neurology

      Volume: 78 Pages: 752-764

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Parkinsonian features in a patient with diffuse neurofibrillary tangles with calcification (DNTC)2012

    • Author(s)
      Ikeuchi T, Katsui T, Kasuga K, Hirose M, Nishizawa M
    • Journal Title

      Parkinsonism & Related Disorders

      Volume: 18 Pages: 649-650

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Novel G37V mutation of SOD1 gene in autopsied patient with familial amyotrophic lateral sclerosis2012

    • Author(s)
      Kobayashi J, Kuroda M, Kawata A, Mochizuki Y, Mizutani T, Komori T, Ikeuchi T, Koide R
    • Journal Title

      Amyotrophic Lateral Sclerosis

      Volume: 14 Pages: 570-572

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] α-Synuclein as CSF and Blood Biomarker of Dementia with Lewy Bodies2012

    • Author(s)
      Kasuga K, Nishizawa M, Ikeuchi T
    • Journal Title

      International Journal of Alzheimer's Disease

      Volume: 437025

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Cerebral small-vessel disease protein HTRA1 controls TGF-β1 signaling via cleavage of proTGF-β12011

    • Author(s)
      Shiga A, Nozaki H, Nihonmatsu M, Kawata H, Arima K, Ikeda S, Tanaka A, Nakano I, Ikeuchi T, Nishizawa M, Onodera O
    • Journal Title

      Human Molecular Genetics

      Volume: 20 Pages: 1800-1810

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Predominant executive cognitive deficit and cerebral white matter lesion in a patient with fragile X-associated tremor/ataxia syndrome (FXTAS)2011

    • Author(s)
      Kasuga K, Ikeuchi T, Arakawa K, Yajima R, Tokugake T, Nishizawa M
    • Journal Title

      Case Reports in Neurology

      Volume: 3 Pages: 118-123

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Genotype-phenotype correlations in early onset ataxia with ocular motor apraxia and hypoalbuminemia2011

    • Author(s)
      Yokoseki A, Ishihara T, Yamada M, Murakami C, Tsuchiya M, Date H, Sato T, Tada M, Ikeuchi T, Tsuji S, Nishizawa M, Onodera O
    • Journal Title

      Brain

      Volume: 134 Pages: 1387-1399

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Clinical characteristics and evidence for a common founder in Japanese families with MAPT R406W mutation2011

    • Author(s)
      Ikeuchi T, Imamura T, Kawase Y, Kitade Y, Tokutake T, Yajima R, Tsukie T, Miyashita A, Sugishita M, Kuwano R, Nishizawa M
    • Journal Title

      Dementia Geriatric Cognitive Disorders EXTRA

      Volume: 1 Pages: 267-275

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Predominant executive cognitive deficit and cerebral white matter lesionin a patient with fragile X-associated tremor/ataxia syndrome (FXTAS)2011

    • Author(s)
      Kasuga, et al.
    • Journal Title

      Case Report in Neurology

      Volume: 3 Issue: 2 Pages: 118-123

    • DOI

      10.1159/000328838

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Evidence for a common founder and clinical characteristics of Japanese families with MAPT R406W mutation2011

    • Author(s)
      Ikeuchi, et al.
    • Journal Title

      Dementia Geriatric Cognitive Disorder EXTRA

      Volume: 1 Issue: 1 Pages: 267-275

    • DOI

      10.1159/000331243

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Coordinated increase of y-secretase products in the plasma of some female Japanese sporadic Alzheimer's disease patients: quantitative analysis of p3-Alca with a new ELISA system2011

    • Author(s)
      Konno, et al.
    • Journal Title

      Molecular Neurodegeneration

      Volume: 6 Issue: 1 Pages: 76-76

    • DOI

      10.1186/1750-1326-6-76

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Involvement of Onuf's nucleus in Machado-Joseph disease2010

    • Author(s)
      Shimizu H, Yamada M, Toyoshima Y, Ikeuchi T, Onodera O, Takahashi H
    • Journal Title

      Acta Neuropathologica

      Volume: 120 Pages: 439-448

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Long-term disability and prognosis in dentatorubral-pallidoluysian atrophy (DRPLA): a correlation with CAG repeat length2010

    • Author(s)
      Hasegawa A, Ikeuchi T, Koike R, Mataubara N, Tsuchiya M, Nozaki H, Homma A, Idezuka J, Nishizawa M, Onodera O
    • Journal Title

      Movement Disorders

      Volume: 25 Pages: 1694-1700

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Sporadic four-repeat tauopathy with frontotemporal lobar degeneration, parkinsonism and motor neuron disease: a distinct clinicopathological and biochemical disease entity2010

    • Author(s)
      Fu Y, Nishihira Y, Kuroda S, Toyoshima Y, Ishihara T, Shinozaki M, Miyashita A, Piao YS, Tan CF, Tani T, Koide R, Iwanaga K, Tsujihata M, Onodera O, Kuwano R, Nishizawa M, Kakita A, Ikeuchi T, Takahashi H
    • Journal Title

      Acta Neuropathologica

      Volume: 120 Pages: 21-32

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Alzheimer's disease: Report of two autopsy cases with a clinical diagnosis of corticobasal degeneration2010

    • Author(s)
      Okazaki K, Fu Y-J, Nishihira Y, Endo M, Fukushima T, Ikeuchi T, Okamoto K, Onodera O, Nishizawa M, Takahashi H
    • Journal Title

      Neuropathology

      Volume: 30 Pages: 140-148

    • NAID

      10029320298

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Differential levels of α-synuclein, β-amyloid, and tau in cerebrospinal fluid between patients with dementia with Lewy bodies and Alzheimer disease2010

    • Author(s)
      Kasuga K, Tokutake T, Ishikawa A, Uchiyama T, Tokuda T, Onodera O, Nishizawa M, Ikeuchi T
    • Journal Title

      Journal of Neurology, Neurosurgery & Psychiatry

      Volume: 81 Pages: 608-610

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Increased levels of soluble LR11 in cerebrospinal fluid of patients with Alzheimer disease2010

    • Author(s)
      Ikeuchi, et al
    • Journal Title

      Dementia and Geriatric Cognitive Disorders

      Volume: 30 Pages: 28-32

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Long-term disability and prognosis in dentatorubral-pallidoluysian atrophy (DRPLA) : a correlation with CAG repeat length2010

    • Author(s)
      Hasegawa, et al
    • Journal Title

      Movement Disorders

      Volume: 25 Pages: 1694-1700

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Differential levels of α-synuclein, β-amyloid, and tau in cerebrospinal fluid between patients with dementia with Lewy bodies and Alzheimer disease2010

    • Author(s)
      Kasuga, et al
    • Journal Title

      Journal of Neurology, Neurosurgery, Psychiatry

      Volume: 81 Pages: 608-610

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Depression and psychiatric symptoms preceding onset of dementia in family with early-onset Alzheimer disease with novel PSEN1 mutation2009

    • Author(s)
      Kasuga, et al.
    • Journal Title

      Journal of Neurology

      Volume: 256 Pages: 1351-1353

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mutations in HTRA1 are associated with familial ischemic cerebral small-vessel disease.2009

    • Author(s)
      Hara, et al.
    • Journal Title

      New England Journal of Medicine

      Volume: 360 Pages: 1729-1739

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Novel GFAP mutation in patient with adult-onset Alexander disease presenting with spastic ataxia2009

    • Author(s)
      Kaneko, et al.
    • Journal Title

      Movement Disorders

      Volume: 24 Pages: 1393-1395

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Kuwano R. SORL1 is genetically associated with late-onset al.zheimer's disease in Japanese, Koreans and Caucasian

    • Author(s)
      Miyashita A, Koike A, Jun G, (13名略), Ikeuchi T, (42名略)
    • Journal Title

      PLOS One

      Volume: (in press)

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Extensive aggregation of α-synuclein and tau in juvenile-onset neuroaxonal dystrophy: an autopsied individual with a novel mutation in the PLA2G6 gene-splicing site

    • Author(s)
      Riku Y, Ikeuchi T, Yoshino H, Mimuro M, Mano K, Goto Y, Hattori N, Sobue G, Yoshida M
    • Journal Title

      Acta Neuropathologica Communication

      Volume: (in press)

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Presentation] 神経軸索スフェロイドを伴う白質脳症HDLSの臨床・遺伝学的解析2013

    • Author(s)
      他田正義,今野卓哉,他田真理,荒川武蔵,小山哲秀,野崎洋明,針谷康夫,西宮仁,松永晶子,米田誠,吉倉延亮,犬塚貴,石原健司,河村満,高橋均,小野寺理,西澤正豊,池内 健
    • Organizer
      第54回日本神経学会
    • Place of Presentation
      東京
    • Year and Date
      2013-05-31
    • Related Report
      2011 Final Research Report
  • [Presentation] 神経軸索スフェロイドを伴う白質脳症HDLSにおけるCSF-1Rシグナル伝達異常の解析2013

    • Author(s)
      今野卓哉,他田正義,小山哲秀,他田真理,荒川武蔵,野崎洋明,針谷康夫,西宮仁,松永晶子,米田誠,吉倉延亮,犬塚貴,石原健司,河村満,高橋均,小野寺理,西澤正豊,池内 健
    • Organizer
      第54回日本神経学会
    • Place of Presentation
      東京
    • Year and Date
      2013-05-31
    • Related Report
      2011 Final Research Report
  • [Presentation] リポタンパク受容体LR11によるアポリポ蛋白E(ApoE)アイソフォーム依存性の調節機構2012

    • Author(s)
      西野香織,矢島隆二,徳武孝允,手塚敏之,西澤正豊,池内 健
    • Organizer
      第35回分子生物学会
    • Place of Presentation
      福岡
    • Year and Date
      2012-12-14
    • Related Report
      2011 Final Research Report
  • [Presentation] 若年性認知症を呈する白質脳症:HDLS患者のCSF1R変異,MRI所見,臨床像,病理像の検討2012

    • Author(s)
      今野卓哉,他田正義,小山哲秀,荒川武蔵,岡崎健一,柿田明美,高橋均,西澤正豊,小野寺理,池内 健
    • Organizer
      第31回日本認知症学会
    • Place of Presentation
      つくば市
    • Year and Date
      2012-10-26
    • Related Report
      2011 Final Research Report
  • [Presentation] 脳アミロイドアンギオパチー関連炎症の臨床的多様性:画像所見,APOE,血中Aβ抗体2012

    • Author(s)
      須貝章弘,石井賢二,赤岩靖久,本間篤,藤田信也,田中晋,豊原潤,石渡喜一,西澤正豊,池内 健
    • Organizer
      第31回日本認知症学会
    • Place of Presentation
      つくば市
    • Year and Date
      2012-10-26
    • Related Report
      2011 Final Research Report
  • [Presentation] Late Breaking Symposium「新たな若年性認知症:神経軸索ジストロフィーを伴う遺伝性白質脳症(HDLS).HDLSの分子病態と白質を主病変とする他疾患との異常2012

    • Author(s)
      池内 健
    • Organizer
      第53回 日本神経学会学術大会.
    • Place of Presentation
      東京
    • Year and Date
      2012-05-25
    • Related Report
      2011 Final Research Report
  • [Presentation] アルツハイマー病の発症機構における糖尿病の関与2011

    • Author(s)
      池内健
    • Organizer
      第30回日本認知症学会学術集会
    • Place of Presentation
      東京
    • Year and Date
      2011-11-11
    • Related Report
      2011 Annual Research Report
  • [Presentation] アルツハイマー病患者・髄液中における可溶性LR11の増加2011

    • Author(s)
      池内 健,平山哲,三井田孝,深町勇,矢島隆二,徳武孝允,金子博之,春日健作,海老沼宏幸,田久保耕平,武城英明,西澤正豊
    • Organizer
      第52回日本神経学会
    • Place of Presentation
      名古屋
    • Year and Date
      2011-05-20
    • Related Report
      2011 Final Research Report
  • [Presentation] βアミロイドによる誘発されるタウリン酸化におけるインスリンシグナル障害の関与2011

    • Author(s)
      徳武孝允,池内 健,春日健作,矢島隆二,石原智彦,西澤正豊
    • Organizer
      第52回日本神経学会
    • Place of Presentation
      名古屋
    • Year and Date
      2011-05-19
    • Related Report
      2011 Final Research Report
  • [Presentation] レビー小体型認知症(DLB)の新規バイオマーカー:髄液αシヌクレインのELISA定量2010

    • Author(s)
      徳武孝允,春日健作,矢島隆二,石川厚,内山剛,徳田隆彦,西澤正豊,池内 健
    • Organizer
      第29回日本認知症学会学術集会
    • Place of Presentation
      名古屋
    • Year and Date
      2010-11-05
    • Related Report
      2011 Final Research Report
  • [Presentation] アルツハイマー病患者・髄液中では可溶性LR11が増加する2010

    • Author(s)
      池内 健,平山哲,三井田孝,深町勇,矢島隆二,徳武孝允,春日健作,金子博之,田久保耕平,海老沼宏幸,武城英明,西澤正豊
    • Organizer
      第29回日本認知症学会学術集会
    • Place of Presentation
      名古屋
    • Year and Date
      2010-11-05
    • Related Report
      2011 Final Research Report
  • [Presentation] アルツハイマー病患者・髄液中では可溶型LR11が増加する2010

    • Author(s)
      池内健, 他
    • Organizer
      第29回日本認知症学会学術集会
    • Place of Presentation
      名古屋市
    • Year and Date
      2010-11-05
    • Related Report
      2010 Annual Research Report
  • [Presentation] 健忘主体の臨床徴候を呈するタウ遺伝子R406W変異を伴う家族性認知症2010

    • Author(s)
      池内 健,春日健作,宮下哲典,川瀬康裕,杉下守弘,桑野良三,西澤正豊
    • Organizer
      第51回日本神経学会
    • Place of Presentation
      東京
    • Year and Date
      2010-05-20
    • Related Report
      2011 Final Research Report
  • [Presentation] βアミロイド依存性タウリン酸化カスケードにおけるインスリンシグナル障害の関与2010

    • Author(s)
      徳武孝允,池内 健,春日健作,篠崎 真,小野寺理,西澤正豊
    • Organizer
      第51回日本神経学会 2
    • Place of Presentation
      東京
    • Year and Date
      2010-05-20
    • Related Report
      2011 Final Research Report
  • [Presentation] 健忘主体な特異な臨床型を呈したタウ遺伝子(MAPT)R406W変異を伴う家族性認知症の臨床分子遺伝学的解析2009

    • Author(s)
      池内健, 他
    • Organizer
      第28回日本認知症学会学術集会
    • Place of Presentation
      東北大学百周年記念会館(宮城県)
    • Year and Date
      2009-11-21
    • Related Report
      2009 Annual Research Report
  • [Book] 認知症診療Q&A2012

    • Author(s)
      池内 健,他
    • Publisher
      中外医学社
    • Related Report
      2011 Final Research Report
  • [Book] 日本臨床,認知症学 (上)2011

    • Author(s)
      池内 健,他
    • Total Pages
      103
    • Publisher
      Progranulin
    • Related Report
      2011 Final Research Report
  • [Book] 綜合臨牀認知症の疫学・遺伝学2011

    • Author(s)
      池内 健
    • Total Pages
      1809
    • Related Report
      2011 Final Research Report
  • [Book] 最新医学生化学マーカー,遺伝子2011

    • Author(s)
      池内 健,他
    • Total Pages
      2122
    • Related Report
      2011 Final Research Report

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Published: 2009-04-01   Modified: 2018-03-28  

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