文献リスト

1) http://www.molgen.ua.ac.be/CMTMutations/default.cfm

2) http://www.geneclinics.org/

3) 池上 徹, 秋葉 香, 今泉益栄, 他. ビンクリスチン投与により顕症化した遺伝性ニューロパチーの1例. 日本小児科学会誌. 1998; 10: 1210-3

4) 馬場 正, 鈴木千恵子, 金 春玉. 遺伝性運動感覚ニューロパチーの症状進行を規定する因子に関する臨床電気生理学的研究. In: 厚生労働省精神・神経疾患研究委託費｢遺伝性ニューロパチーの診断システムの確立及び治療に関する研究｣総括研究報告書(平成13年度-平成15年度). p. 52

5) Mostacciuolo ML, Righetti E, Zortea M, et al. Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families. Hum Mutat. 2001; 18: 32-41

6) Boerkoel CF, Takashima H, Garcia CA, et al. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann Neurol. 2002; 51: 190-201

7) Nelis E, Van Broeckhoven C, De Jonghe P, et al. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet. 1996; 4: 25-33

8)

9) Hattori N, Yamamoto M, Yoshihara T, et al. Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients. Brain. 2003; 126: 134-51

10) 山本正彦, 服部直樹, 祖父江元. 遺伝性ニューロパチーの疫学. 神経進歩. 2003; 47: 563-76

11) 祖父江元. 遺伝子性ニューロパチーの成因および治療に関する研究. In: 厚生労働省精神・神経疾患研究委託費｢遺伝性ニューロパチーの診断システムの確立及び治療に関する研究｣総括研究報告書(平成13年度-平成15年度). p. 5

12) 中川正法, 高嶋 博, 末原雅人, 他. 鹿児島・沖縄地域における遺伝性ニューロパチーの分子疫学. In: 厚生労働省精神・神経疾患研究委託費｢遺伝子性ニューロパチーの成因および治療に関する研究班｣平成11年度総会要旨集. p. 17

13) Jordanova A, De Jonghe P, Boerkoel CF, et al. Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain. 2003; 126: 590-7

14) Abe A, Numakura C, Saito K. Neurofilament light chain polypeptide (NEFL) gene mutations in Charcot-Marie-Tooth disease: Missense and nonsense mutations cause dominant and recessive phenotypes, respectively (submitted to journal)

15) Yoshihara T, Yamamoto M, Hattori N, et al. Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals. J Peripher Nerv Syst. 2002; 7: 221-4

16) Kijima K, Numakura C, Izumino H, et al. Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. Hum Genet. 2005; 116: 23-7

17) Chung KW, Kim SB, Park KD, et al. Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. Brain. 2006; 129: 2103-18

18) Verhoeven K, Claeys KG, Zuchner S, et al. MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain. 2006; 129: 2093-102

19) Kurihara S, Adachi Y, Imai C, et al. Charcot-Marie-Tooth families in Japan with MPZ Thr124Met mutation. J Neurol Neurosurg Psychiatry. 2004; 75: 1492-4

20) Takashima H, Nakagawa M, Nakahara K, et al. A new type of hereditary motor and sensory neuropathy linked to chromosome 3. Ann Neurol. 1997; 41: 771-80

21) Kijima K, Numakura C, Goto T, et al. Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy. J Hum Genet. 2005; 50: 473-6

22) Numakura C, Lin C, Oka N, et al. Hemizygous mutation of the peripheral myelin protein 22 gene associated with Charcot-Marie-Tooth disease type 1. Ann Neurol. 2000; 47: 101-3

23) Hodapp JA, Carter GT, Lipe HP, et al. Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes. Arch Neurol. 2006; 63: 112-7

24) Kijima K, Numakura C, Shirahata E, et al. Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease. J Hum Genet. 2004; 49: 376-9

25) Otagiri T, Sugai K, Kijima K, et al. Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease. J Hum Genet. 2006; 51: 625-8

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