Identification of causative gene for autosomal recessive hereditary spastic paraplegia

• Project/Area Number: 24890044
• Research Category: Grant-in-Aid for Research Activity Start-up
• Allocation Type: Single-year Grants
• Research Field: Neurology
• Research Institution: The University of Tokyo
• Principal Investigator: ISHIURA Hiroyuki 東京大学, 医学部附属病院, 助教 (40632849)
• Project Period (FY): 2012-08-31 – 2014-03-31
• Project Status: Completed (Fiscal Year 2013)
• Budget Amount: ¥2,990,000 (Direct Cost: ¥2,300,000、Indirect Cost: ¥690,000); Fiscal Year 2013: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000); Fiscal Year 2012: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
• Keywords: 遺伝性痙性対麻痺 / エクソーム解析 / 次世代シーケンサー

Research Abstract

Exome analysis for 16 patients with autosomal recessive hereditary spastic paraplegia was performed. Among them, I found a patient with SPG15, a rare form of autosomal recessive spastic paraplegia. Three homozygous mutations was found in a gene in 3 patients with hereditary spastic paraplegia with retinitis pigmentosa. Further studies are needed to characterize the mutations.

Research Products

• [Journal Article] Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses (2014)
  • Author(s): Ishiura H, Takahashi Y, Hayashi T, Saito K, Furuya H, Watanabe M, Murata M, Suzuki M, Sugiura A, Sawai S, Shibuya K, Ueda N, Ichikawa Y, Kanazawa I, Goto J, Tsuji S
  • Journal Title: J Hum Genet Volume: 59 Pages: 163-72
  • NAID: 40020021308
• [Journal Article] Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation (2014)
  • Author(s): Shimazaki H, Ishiura H, et al.
  • Journal Title: J Neurol Neurosurg Psychiatry Volume: (epub ahead of print)
• [Journal Article] Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12 (2013)
  • Author(s): Landoure G, Ishiura H, et al.
  • Journal Title: Hum Mutat Volume: 34 Pages: 1357-60
• [Journal Article] Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1 (2013)
  • Author(s): Ichikawa Y, Ishiura H, et al.
  • Journal Title: J Neurol Sci Volume: 331 Pages: 158-60