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Identification of the novel genes responsible for hereditary spastic paraplegias

Research Project

Project/Area Number 23591253
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Neurology
Research InstitutionJichi Medical University

Principal Investigator

SHIMAZAKI HARUO  自治医科大学, 医学部, 講師 (30316517)

Co-Investigator(Kenkyū-buntansha) TAKIYAMA Yoshihisa  山梨大学, 医学部, 教授 (00245052)
Project Period (FY) 2011 – 2013
Project Status Completed (Fiscal Year 2013)
Budget Amount *help
¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2013: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2012: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2011: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
Keywords遺伝性痙性対麻痺 / 連鎖解析 / エクソーム解析 / SPG55 / C12orf65遺伝子 / LYST遺伝子 / モデル動物 / TALEN / ATM遺伝子 / 遺伝性脊髄小脳変性症 / Chediak-Higashi症候群 / C12orf65 / ミトコンドリアDNA翻訳
Research Abstract

We attempted to identify the causative gene mutations for the four families that have suffered from autosomal recessive hereditary spastic paraplegias (ARHSP). Using homozygosity mapping and exome sequencing, we could isolate a homozygous nonsense mutation in the responsible gene, C12orf65, in one complicated ARHSP family. HUGO assigned this type of ARHSP as SPG55. We also detected a novel homozygous missense mutation of the LYST gene in another complicated ARHSP family.
We also have investigated the responsive genes in two pure ARHSP families by homozygosity mapping and exome sequencing. We identified two homozygous single nucleotide variants of two genes in the two families. We are verifying whether these variants are the causative mutations or not.

Report

(4 results)
  • 2013 Annual Research Report   Final Research Report ( PDF )
  • 2012 Research-status Report
  • 2011 Research-status Report
  • Research Products

    (36 results)

All 2014 2013 2012 2011 Other

All Journal Article (15 results) (of which Peer Reviewed: 8 results) Presentation (18 results) Book (3 results)

  • [Journal Article] Autosomal recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation.2014

    • Author(s)
      Shimazaki H, et al.
    • Journal Title

      J Neurol Neurosurg Psychiatry

      Volume: 85 Issue: 9 Pages: 1-5

    • DOI

      10.1136/jnnp-2013-306981

    • Related Report
      2013 Annual Research Report 2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] 常染色体劣性遺伝性痙性対麻痺2014

    • Author(s)
      嶋崎晴雄
    • Journal Title

      日本臨床別冊神経症候群II-その他の神経疾患を含めて-

      Volume: 第2版 Pages: 438-442

    • Related Report
      2013 Final Research Report
  • [Journal Article] 常染色体劣性遺伝性痙性対麻痺2014

    • Author(s)
      嶋崎晴雄
    • Journal Title

      日本臨床別冊:神経症候群II-その他の神経疾患を含めて-

      Volume: 72 Pages: 438-442

    • Related Report
      2013 Annual Research Report
  • [Journal Article] Middle cerebellar peduncles and pontine T2 hypointensities in ARSACS2013

    • Author(s)
      Shimazaki H, Takiyama Y, Honda J, Sakoe K, Namekawa M, Tsugawa J, Tsuboi Y, Suzuki C, Baba M, Nakano I
    • Journal Title

      J Neuroimaging

      Volume: 23(1) Issue: 1 Pages: 82-85

    • DOI

      10.1111/j.1552-6569.2011.00647.x

    • Related Report
      2013 Final Research Report 2012 Research-status Report 2011 Research-status Report
    • Peer Reviewed
  • [Journal Article] 視神経萎縮,末梢神経障害を伴う常染色体劣性遺伝性痙性対麻痺(SPG55).特集/脊髄小脳変性症の研究の進歩2013

    • Author(s)
      嶋崎晴雄
    • Journal Title

      神経内科

      Volume: 78(3) Pages: 283-9

    • Related Report
      2013 Final Research Report
  • [Journal Article] Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation.2013

    • Author(s)
      Buchert R, Shimazaki H, et al.
    • Journal Title

      Eur J Med Genet

      Volume: 56 Issue: 11 Pages: 599-602

    • DOI

      10.1016/j.ejmg.2013.09.010

    • Related Report
      2013 Annual Research Report 2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] 視神経萎縮,末梢神経障害を伴う常染色体劣性遺伝性痙性対麻痺(SPG55)2013

    • Author(s)
      嶋崎晴雄
    • Journal Title

      神経内科

      Volume: 78 Pages: 283-289

    • Related Report
      2012 Research-status Report
  • [Journal Article] Novel compound heterozygous mutations of the SACS gene in autosomal recessive spastic ataxia of Charlevoix-Saguenay2012

    • Author(s)
      Haga R, Miki Y, Funamizu Y, Kon T, Suzuki C, Ueno T, Nishijima H, Arai A, Tomiyama M, Shimazaki H, Takiyama Y, Baba M
    • Journal Title

      Clin Neurol Neurosurg

      Volume: 114(6) Issue: 6 Pages: 746-747

    • DOI

      10.1016/j.clineuro.2011.12.019

    • Related Report
      2013 Final Research Report 2012 Research-status Report 2011 Research-status Report
    • Peer Reviewed
  • [Journal Article] A novel adult case of juvenile-onset Alexander disease: complete remission of neurological symptoms for over 12 years, despite insidiously progressive cervicomedullary atrophy2012

    • Author(s)
      Namekawa M, Shimazaki H, et al.
    • Journal Title

      Neurol Sci

      Volume: 33 Issue: 6 Pages: 1389-1392

    • DOI

      10.1007/s10072-011-0902-z

    • Related Report
      2013 Final Research Report 2012 Research-status Report 2011 Research-status Report
    • Peer Reviewed
  • [Journal Article] A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55)2012

    • Author(s)
      Shimazaki H, Takiyama Y, Ishiura H, Sakai C, Matsushima Y, Hatakeyama H, Honda J, Sakoe K, Naoi T, Namekawa M, Fukuda Y, Takahashi Y, Goto J, Tsuji S, Goto Y, Nakano I
    • Journal Title

      J Med Genet

      Volume: 49(12) Issue: 12 Pages: 777-84

    • DOI

      10.1136/jmedgenet-2012-101212

    • Related Report
      2013 Final Research Report 2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] 脊髄小脳変性症,多系統萎縮症,進行性核上性麻痺.疾患概念の変遷と,脊髄疾患ならびにパーキンソン病との鑑別2012

    • Author(s)
      嶋崎晴雄,中野今治
    • Journal Title

      脊髄外科SPINAL SURGERY

      Volume: 26(3) Pages: 278-283

    • Related Report
      2013 Final Research Report
  • [Journal Article] 常染色体劣性遺伝性痙性対麻痺の臨床-SPG11, ARSACSを中心に-,特集/遺伝性痙性対麻痺-update2011

    • Author(s)
      嶋崎晴雄
    • Journal Title

      神経内科

      Volume: 74(2) Pages: 127-134

    • Related Report
      2013 Final Research Report
  • [Journal Article] 遺伝性痙性対麻痺の疫学:JASPAC.特集/遺伝性痙性対麻痺-update2011

    • Author(s)
      瀧山嘉久,石浦浩之,嶋崎晴雄,辻省次,西澤正豊
    • Journal Title

      神経内科

      Volume: 74(2) Pages: 141-145

    • Related Report
      2013 Final Research Report
  • [Journal Article] 当院におけるPosterior reversible encephalopathy syndrome (PRES) 12症例の検討.2011

    • Author(s)
      中原圭一,嶋崎晴雄ら
    • Journal Title

      日本神経救急学会雑誌

      Volume: 23巻 Pages: 24-28

    • Related Report
      2011 Research-status Report
    • Peer Reviewed
  • [Journal Article] 一級症状(K. Schneider)を呈した抗NMDA受容体脳炎の一例.2011

    • Author(s)
      松本卓也,嶋崎晴雄ら
    • Journal Title

      精神科治療学

      Volume: 26巻 Pages: 1035-1043

    • Related Report
      2011 Research-status Report
    • Peer Reviewed
  • [Presentation] 常染色体劣性遺伝が疑われた遺伝痙性対麻痺症例のexome解析2013

    • Author(s)
      石浦浩之,高紀信、嶋崎晴雄、三井純、高橋祐二、吉村淳、土井晃一郎、森下真一、後藤順、瀧山嘉久、辻省次、JASPAC
    • Organizer
      日本人類遺伝学会第58回大会
    • Place of Presentation
      仙台
    • Year and Date
      2013-11-22
    • Related Report
      2013 Final Research Report
  • [Presentation] Novel ATM mutation in autosomal recessive late-onset cerebellar ataxia with neuropathy2013

    • Author(s)
      Shimazaki H, Sugaya R, Honda J, Meguro A, Nakano I
    • Organizer
      American Society of Human Genetics 2013 Annual Meeting
    • Place of Presentation
      Boston
    • Year and Date
      2013-10-24
    • Related Report
      2013 Final Research Report
  • [Presentation] 小脳失調,末梢神経障害を呈した常染色体劣性遺伝性痙性対麻痺家系の遺伝子解析2013

    • Author(s)
      嶋崎晴雄,本多純子,直井為任,滑川道人,石浦浩之,福田陽子,高橋祐二,後藤順,辻省次,矢崎正英,中村勝哉,吉田邦広,池田修一,瀧山嘉久,中野今治
    • Organizer
      第54回日本神経学会総会
    • Place of Presentation
      東京
    • Year and Date
      2013-05-31
    • Related Report
      2013 Final Research Report
  • [Presentation] Adult Chediak-Higashi syndrome presenting as spastic paraplegia, cerebellar ataxia and neuropathy2013

    • Author(s)
      Shimazaki H, Takiyama Y, Ishiura H, Tsuji S, Yazaki M, Nakano I
    • Organizer
      American Academy of Neurology 65^<th> Annual Meeting
    • Place of Presentation
      San Diego
    • Year and Date
      2013-05-21
    • Related Report
      2013 Final Research Report
  • [Presentation] 小脳失調,末梢神経障害を呈した常染色体劣性遺伝性痙性対麻痺家系の遺伝子解析2013

    • Author(s)
      嶋崎晴雄ら.
    • Organizer
      平成24年度運動失調症の病態解明と治療法開発に関する研究班会議
    • Place of Presentation
      東京
    • Related Report
      2012 Research-status Report
  • [Presentation] Adult Chediak-Higashi syndrome presenting as spastic paraplegia, cerebellar ataxia and neuropathy2013

    • Author(s)
      Shimazaki H, et.al.
    • Organizer
      American Academy of Neurology 65th Annual Meeting
    • Place of Presentation
      San Diego
    • Related Report
      2012 Research-status Report
  • [Presentation] Homozygous nonsense mutations of C12orf65 gene in patients with spastic paraplegia, optic atrophy and neuropathy (SPG55)2012

    • Author(s)
      Shimazaki H, Takiyama Y, Ishiura H, Tsuji S, Goto Y, Nakano I
    • Organizer
      2012 Annual Meeting of American Neurological Association
    • Place of Presentation
      Boston
    • Year and Date
      2012-10-07
    • Related Report
      2013 Final Research Report 2012 Research-status Report
  • [Presentation] 視神経萎縮,末梢神経障害を伴う遺伝性痙性対麻痺の原因遺伝子同定2012

    • Author(s)
      嶋崎晴雄,石浦浩之,福田陽子,本多純子,迫江公己,太田京子,直井為任,滑川道人,高橋祐二,後藤順,辻省次,後藤雄一,瀧山嘉久,中野今治
    • Organizer
      第53回日本神経学会総会
    • Place of Presentation
      東京
    • Year and Date
      2012-05-23
    • Related Report
      2013 Final Research Report 2012 Research-status Report
  • [Presentation] 遺伝性痙性対麻痺の新規原因遺伝子同定とその機能解析2012

    • Author(s)
      嶋崎晴雄ら.
    • Organizer
      新学術「ゲノム支援」拡大班会議
    • Place of Presentation
      御殿場
    • Related Report
      2012 Research-status Report
  • [Presentation] 視神経萎縮, 末梢神経障害を伴う遺伝性痙性対麻痺の原因遺伝子同定.2012

    • Author(s)
      嶋崎晴雄ら.
    • Organizer
      平成23年度運動失調症の病態解明と治療法開発に関する研究班会議
    • Place of Presentation
      東京
    • Related Report
      2011 Research-status Report
  • [Presentation] 視神経萎縮,末梢神経障害を伴う遺伝性痙性対麻痺症例の臨床像と,原因遺伝子検索2011

    • Author(s)
      嶋崎晴雄,石浦浩之,福田陽子,本多純子,太田京子,直井為任,滑川道人,迫江公己,高橋祐二,後藤順,辻省次,瀧山嘉久,中野今治
    • Organizer
      第52回日本神経学会総会
    • Place of Presentation
      名古屋
    • Year and Date
      2011-05-20
    • Related Report
      2013 Final Research Report
  • [Presentation] SPG4遺伝子産物spastinの機能解析2011

    • Author(s)
      迫江公己,嶋崎晴雄,滑川道人,直井為任,本多純子,瀧山嘉久,中野今治
    • Organizer
      第52回日本神経学会総会
    • Place of Presentation
      名古屋
    • Year and Date
      2011-05-18
    • Related Report
      2013 Final Research Report
  • [Presentation] 視神経萎縮,末梢神経障害を伴う遺伝性痙性対麻痺症例の臨床像と, 原因遺伝子検索.2011

    • Author(s)
      嶋崎晴雄ら.
    • Organizer
      第52回日本神経学会総会
    • Place of Presentation
      名古屋
    • Related Report
      2011 Research-status Report
  • [Presentation] Diffuse reduction of cerebral blood flow, cognitive impairment and depressive mood in sporadic SCD cases with APTX and SETX mutations.2011

    • Author(s)
      Ikeda M, Shimazaki H, et al.
    • Organizer
      4th International Symposium, Society for Research on the Cerebellum.
    • Place of Presentation
      Tokyo
    • Related Report
      2011 Research-status Report
  • [Presentation] 小脳失調,末梢神経障害を呈した常染色体劣性遺伝性痙性対麻痺家系の遺伝子解析.

    • Author(s)
      嶋崎晴雄ら.
    • Organizer
      第54回日本神経学会総会
    • Place of Presentation
      東京
    • Related Report
      2013 Annual Research Report
  • [Presentation] 常染色体劣性遺伝性痙性対麻痺の新規原因遺伝子探索

    • Author(s)
      嶋崎晴雄ら.
    • Organizer
      新学術「ゲノム支援」2013年度拡大班会議
    • Place of Presentation
      神戸
    • Related Report
      2013 Annual Research Report
  • [Presentation] Novel ATM mutation in autosomal recessive late-onset cerebellar ataxia with neuropathy.

    • Author(s)
      Shimazaki, H. et al.
    • Organizer
      American Society of Human Genetics 2013 Annual Meeting
    • Place of Presentation
      Boston
    • Related Report
      2013 Annual Research Report
  • [Presentation] 常染色体劣性遺伝性痙性対麻痺の新規原因遺伝子探索

    • Author(s)
      嶋崎晴雄ら.
    • Organizer
      平成25年度運動失調症の病態解明と治療法開発に関する研究班会議
    • Place of Presentation
      東京
    • Related Report
      2013 Annual Research Report
  • [Book] Autosomal recessive spastic ataxia of Charlevoix-Saguenay : clinical, radiological and epidemiological aspects. Spinocerebellar Ataxia(Edited by Prof. Jose Gazulla)2012

    • Author(s)
      Shimazaki H and Takiyama Y
    • Publisher
      InTech, Rijeka, Croatia(ISBN:978-953-51-0542-8)(査読有)
    • Related Report
      2013 Final Research Report
  • [Book] Spinocerebellar Ataxia2012

    • Author(s)
      Shimazaki H and Takiyama Y.
    • Total Pages
      172
    • Publisher
      InTech
    • Related Report
      2012 Research-status Report
  • [Book] Clinical aspects of anti-NMDA receptor encephalitis. In Pathogenesis of encephalitis2011

    • Author(s)
      Shimazaki H.
    • Total Pages
      344
    • Publisher
      InTech, Rijeka, Croatia.
    • Related Report
      2011 Research-status Report

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Published: 2011-08-05   Modified: 2019-07-29  

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