molecular genetic analysis of the three hereditary neurodegenerative disorders specifically in Japan

2012 Fiscal Year Final Research Report

• Project/Area Number: 22590939
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Neurology
• Research Institution: Kagoshima University
• Principal Investigator: OHKUBO Ryuichi 鹿児島大学, 大学院・医歯学総合研究科, 講師 (50381166)
• Co-Investigator(Kenkyū-buntansha): TAKASHIMA Hiroshi 鹿児島大学, 大学院・医歯学総合研究科, 教授 (80372803)
• Project Period (FY): 2010 – 2012
• Keywords: HMSN-P / HDLS / SCA31 / 次世代シークエンサー / 白質脳症 / 若年性認知症

Research Abstract

We studied molecular genetics of the three hereditary neurodegenerative disorders specifically in Japan. TRK-fused gene mutation with hereditary motor and sensory neuropathy (HMSN-P) in Okinawa was identified. Clinical features of hereditary diffuse leukoencephalopathy with spheroids (HDLS) in Miyakonojo were established in detail in 1997. Accordingly CSF1R gene mutation was identified by Mayo medical school group in 2011. We identified 2.5-3.1kb repeat insertion with 16q-ADCA(SCA31). Otherwise, repeat length is not correlated with clinical feature in southern kyusyu. Furthermore, 16q-ADCA case without repeat insertion are determined. It is expected for theclarification of the pathogenesis.

Research Products

• [Journal Article] Hereditary Sensory and Autonomic Neuropathy Type IID Caused by an SCN9A Mutation (2013)
  • Author(s): Yuan J, Matsuura E, Higuchi Y, Hashiguchi A, Nakamura T, Nozuma S, Sakiyama Y, Yoshimura A, Izumo S, Takashima H
  • Journal Title: Neurology Volume: 80 Pages: 1641-9
  • DOI: DOI:10.1212/WNL.0b013e3182904fdd
  • Peer Reviewed
• [Journal Article] Novel mutation in the replication focus targeting sequence domain of DNMT1 causes hereditary sensory and autonomic neuropathy IE (2013)
  • Author(s): Yuan J, Higuchi Y, Nagado T, Nozuma S, Nakamura T, Matsuura E, Hashiguchi A, Sakiyama Y,Yoshimura A, Takashima H
  • Journal Title: J Peripher Nerv Syst Volume: 18 Pages: 89-93
  • DOI: DOI:10.1111/jns5.12012
  • Peer Reviewed
• [Journal Article] Charcot-marie-tooth disease type 4C in Japan (2013)
  • Author(s): Iguchi M, Hashiguchi A, Ito E, Toda K, Urano M, Shimizu Y, Takeuchi C, Saito K, Takashima H, Uchiyama S
  • Journal Title: Report of a case. Muscle Nerve Volume: 47 Pages: 283-286
  • DOI: DOI:10.1002/mus.23540.
  • Peer Reviewed
• [Journal Article] Intraepidermal nerve fiber density and nerve conduction study parameters correlate with clinical staging of diabetic polyneuropathy (2013)
  • Author(s): Arimura A, Deguchi T, Sugimoto K, Uto T, Nakamura T, Arimura Y, Arimura K,agihashi S, Nishio Y, Takashima H
  • Journal Title: Diabetes Res Clin Pract Volume: 99 Pages: 24-29
  • DOI: DOI:10.1016/j.diabres.2012.09.026
  • Peer Reviewed
• [Journal Article] Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation (2013)
  • Author(s): Tokunaga S, Hashiguchi A, Yoshimura A, Maeda K, Suzuki T, Haruki H, Nakamura T, Okamoto Y, Takashima H
  • Journal Title: Neurogenetics Volume: 13 Pages: 359-365
  • DOI: DOI:10.1007/s10048-012-0338-5
  • Peer Reviewed
• [Journal Article] Inclusion body myositis coexisting with hypertrophic cardiomyopathy: An autopsy study (2012)
  • Author(s): Inamori Y, Higuchi I, Inoue T, Sakiyama Y, Hashiguchi A, Higashi K, Shiraishi T, Okubo R, Arimura K, Mitsuyama Y, Takashima H.
  • Journal Title: Neuromuscul Disord Volume: 22 Pages: 747-754
  • DOI: DOI:10.1016/j.nmd.2012.03.011
  • Peer Reviewed
• [Journal Article] Inflammatory radiculoneuropathy in an ALS4 patient with a novel SETX mutation (2012)
  • Author(s): Saiga T, Tateishi T, Torii T, Kawamura N, Nagara Y, Shigeto H, Hashiguchi A, Takashima H, Honda H, Ohyagi Y, Kira J.
  • Journal Title: Inflammatory radiculoneuropathy in an ALS4 patient with a novel SETX mutation Volume: 83 Pages: 763-764
  • DOI: DOI:10.1136/jnnp-2012-302281
  • Peer Reviewed
• [Journal Article] A novel EGR2 mutation within a family with a mild demyelinating form of Charcot-Marie-Tooth disease (2012)
  • Author(s): Shiga K, Noto Y, Mizuta I, Hashiguchi A, Takashima H, Nakagawa M
  • Journal Title: J Peripher Nerv Syst Volume: 17 Pages: 206-20
  • DOI: DOI:10.1111/j.1529-8027.2012.00403.x
  • Peer Reviewed
• [Journal Article] Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy (2012)
  • Author(s): Zhao Z, Hashiguchi A, Hu J, Sakiyama Y, Okamoto Y, Tokunaga S, Zhu L, Shen H, Takashima H
  • Journal Title: Neurology Volume: 78 Pages: 1644-1649
  • DOI: DOI:10.1212/WNL.0b013e3182574f8f
  • Peer Reviewed
• [Journal Article] Vincristine exacerbates asymptomatic Charcot-Marie-tooth disease with a novel EGR2 mutation. (2012)
  • Author(s): Nakamura T, Hashiguchi A, Suzuki S, Uozumi K, Tokunaga S, Takashima H
  • Journal Title: Neurogenetics Volume: 13 Pages: 77-82
  • DOI: DOI:10.1007/s10048-012-0313-1
  • Peer Reviewed
• [Presentation] 家族性筋萎縮性側索硬化症(SOD1;H46R)の進行期臨床像に関する検討 (2012)
  • Author(s): 大窪隆一、橋口昭大、荒田 仁、徳永章子、高嶋 博、平野隆城、西郷隆二、田代雄一
  • Organizer: 第53回日本神経学会総会
  • Place of Presentation: 東京
  • Year and Date: 2012-05-24
• [Presentation] 嚢胞肺、腎不全、脳卒中様発作を合併したミトコンドリアミオパチー家系の検討 (2011)
  • Author(s): 大窪隆一、樋口逸郎、稲森由恵、岡本裕嗣、田代雄一、橋口昭大、高嶋 博、徳永章子 平野隆城
  • Organizer: 第52回日本神経学会総会
  • Place of Presentation: 名古屋
  • Year and Date: 2011-05-19
• [Presentation] 宮崎県南部に集積する「家族性多系統変性症」の臨床的特徴について (2011)
  • Author(s): 崎山佑介、大窪隆一、西郷隆二、徳永章子、平野隆城、山下秀一、塩見一剛、高嶋 博
  • Organizer: 第52回日本神経学会総会
  • Place of Presentation: 名古屋
  • Year and Date: 2011-05-19