Identity of hereditary cerebellar ataxia, peripheral neuropathy, and hypoalbuminemia

2002 Fiscal Year Final Research Report Summary

• Project/Area Number: 13670821
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Sapporo Medical University
• Principal Investigator: TACHI Nobutada Sapporo Medical University, School of Health Sciences, Assistant Professor, 保健医療学部, 助教授 (80136944)
• Co-Investigator(Kenkyū-buntansha): KOZUKA Naoki Sapporo Medical University, School of Health Sciences, Assistant Professor, 保健医療学部, 助教授 (90225459) ; YAMASHITA Tosiharu Sapporo Medical University, School of Medicine, Assistant Professor, 医学部, 助教授 (50167706)
• Project Period (FY): 2001 – 2002
• Keywords: EOCA-HA / AOA / Aprataxin gene

Research Abstract

Early onset cerebellar ataxia with hypoalbuminemia (EOCA-HA) in Japan and autosomal recessive trait of cerebellar ataxia with ocular aparaxia (AOA) in Portugal are clinically and genetically allelelic disorders. Candidate gene of those disorders are located at chromosome 9pl3.3 by homozygous mapping. Its candidate gene was called "Aprataxin". The human aparataxin gene was about 10 kb length and its cDNA was 2.2kb length with 7 exons. The long transcript was constituted with 342 amino acids and the short form was constiyuted with 168 by alternative splicing in exon 3. The mutation of aprataxin gene in EOCA-HA showed most of 689 insertion T homozygously, and small number of compound heterozygote of 689 insertion T and 617C-T. Present our 5 cases had all 689 insertion T homozygously. Based on those observations, 689 insertion T was founder in Japanese EOCA-HA patients.

Research Products

• [Publications] Tachi N, Kozuka N, Chiba S et al.: "A dopuble mutation in a patient with X-linked myotubular myoapthy"Pediatr Neurol. 24. 297-299 (2001)
  • Description: 「研究成果報告書概要(和文)」より
• [Publications] Tachi N, Kozuka N, Chiba S et al.: "Fukuyama type congenital muscular dystrophy associated with a lack of C-terminal domain of dystronhin"Pediatr Neurol. 24. 373-378 (2001)
  • Description: 「研究成果報告書概要(和文)」より
• [Publications] Tachi N, Kozuka N, Chiba S et al.: "Expression of peripheral myelin protein zero in sural nerve of patients with Charcot-Marie-Tooth disease 1B"Pediatr Neurol. 24. 33-35 (2001)
  • Description: 「研究成果報告書概要(和文)」より
• [Publications] Moreira MC, Barbot C, Tachi N et al.: "The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger Protein anrataxin"Nature Genet. 29. 189-193 (2001)
  • Description: 「研究成果報告書概要(和文)」より
• [Publications] Moreira MC, Barbot C, Tachi N et al.: "Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity"Am J Hum Genet. 68. 501-508 (2001)
  • Description: 「研究成果報告書概要(和文)」より
• [Publications] Tachi N, Kozuka N, Ohya K et al.: "Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation"Eur Neurol. 43. 82-87 (2000)
  • Description: 「研究成果報告書概要(和文)」より
• [Publications] 舘 延忠: "小児科学 第2版"多発性神経炎. 1526-1529 (2002)
  • Description: 「研究成果報告書概要(和文)」より
• [Publications] Tachi ,. Kozuka N, Ohya K, Chiba S, Sasaki K: "Hereditary cerebellar ataxia with peripheral europathy and mental retardation"Eur Neurol. 43. 82-87 (2000)
  • Description: 「研究成果報告書概要(欧文)」より
• [Publications] Moreira MC, Barbot C, Tachi N, Kozuka N, Mendonca P, Barros J, Coutinho P, Sequeiros J, Koenig M: "Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9pl3, and evidence for genetic heterogeneity"Am J Hum Genet. 68. 501-508 (2001)
  • Description: 「研究成果報告書概要(欧文)」より
• [Publications] Tachi N, Kozuka N, Ohya K, Chiba S, Sasaki K, Uyemura K: "Expression of peripheral myelin protein zero in sural nerve of patients with Charcot-Marie-Tooth disease 1B"Pediatr Neurol. 24. 33-35 (2001)
  • Description: 「研究成果報告書概要(欧文)」より
• [Publications] Tachi N, Kozuka,N, Ohya,K, Chiba S, Matsuo,M, Matsumura K, Saito K: "Fukuyama type congenital muscular dystrophy associated with a lack of C-terminal domain of dystrophin"Pediatr Neurol. 24. 373-378 (2001)
  • Description: 「研究成果報告書概要(欧文)」より
• [Publications] Tachi N, Kozuka N, Chiba S, Miyaji M, Watanabe I: "A double mutation in a patient with x-linked myotubular myopathy"Pediatr Neurol. 24. 297-299 (2001)
  • Description: 「研究成果報告書概要(欧文)」より
• [Publications] Moreira MC, Barbot C, Tachi N, Kozuka N, Uchida E, Gibson T, Mendonca P, Costa M, Barros J, Yanagisawa T, Watanabe M, Ikeda Y, Aoki, M, Nagata T, Coutinho P, Sequeiros J, Koenig M: "The gene mutated in ataxia-ocular apraxia encodes the new HIT/Zn-finger protein aprataxin"Nature Genet. 29. 189-193 (2001)
  • Description: 「研究成果報告書概要(欧文)」より