18-10-1　ⓔ文献

  1. Pastores GM, Barnett NL, et al: A neurological symptom survey of patients with type I Gaucher disease. J Inherit Metab Dis, 2003; 26: 641–645.

  2. Goker-Alpan O, Schiffmann R, et al: Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3. J Pediatr, 2003; 143: 273–276.

  3. Sidransky E, Nalls MA, et al: Multicenter analysis of glucocerebrosidase mutations in Parkinson’s disease. N Engl J Med, 2009; 361: 1651–1661.

  4. Mao X, Wang T, et al: Mutations in GBA and risk of Parkinson’s disease: a meta–analysis based on 25 case–control studies. Neurol Res, 2013; 35: 873–878.

  5. Mitsui J, Mizuta I, et al: Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch Neurol, 2009; 66: 571–576.

  6. Zimran A, Altarescu G, et al: Phase 1/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48–month experience. Blood, 2010; 115: 4651–4656.

  7. Poll LW, Maas M, et al: Response of Gaucher bone disease to enzyme replacement therapy. Br J Radiol, 2002; 75 Suppl 1: A25–36.

  8. 中村公俊：Fabry病の疫学と診断．神経内科，2010; 73: 168–172.

  9. Rolfs A, Böttcher T, et al: Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet, 2005; 366: 1794–1796.

  10. 中村勝哉，関島良樹：Fabry病と脳血管障害．神経内科，2010; 73: 173–178.

  11. Garzuly F, Marrodi L, et al: Megadolichobasilar anomaly with thrombosis in a family with Fabry’s disease and a novel mutation in the alpha–galactosidase A gene. Brain, 2005; 128: 2078–2083.

  12. Fellgiebel A, Keller I, et al: Diagnostic utility of different MRI and MR angiography measures in Fabry disease. Neurology, 2009; 72: 63–68.

  13. 衞藤義勝：Fabry病の治療—酵素補充療法を中心に．神経内科，2010; 73: 179–185.

  14. Giugliani R, Waldek S, et al: A phase 2 study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effects. Mol Genet Metab, 2013; 109: 86–92.

  15. Suzuki K: Neuropathology of late onset gangliosidoses. A review. Dev Neurosci, 1991; 13: 205–210.

  16. Roze E, Paschke E, et al: Dystonia and parkinsonism in GM1 type 3 gangliosidosis. Mov Disord, 2005; 20: 1366–1369.

  17. Yoshida K, Oshima A, et al: Human beta–galactosidase gene mutations in GM1–gangliosidosis: a common mutation among Japanese adult/chronic cases. Am J Hum Genet, 1991; 49: 435–442.

  18. 大野耕策：ライソゾーム病の治療，シャペロン療法．血液フロンティア，2010; 20: 69–77.

  19. Porto C, Ferrara MC, et al: Pharmacological enhancement of α–glucosidase by the allosteric chaperone N–acetylcysteine. Mol Ther, 2012; 20: 2201–2211.

  20. Sandhoff K: The GM2–gangliosidoses and the elucidation of the beta–hexosaminidase system. Adv Genet, 2001; 44: 67–91.

  21. Mahuran DJ: The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis. Biochim Biophys Acta, 1991; 1096: 87–94.

  22. Fernandes Filho JA, Shapiro BE: Tay–Sachs disease. Arch Neurol, 2004; 61: 1466–1468.

  23. Mahuran DJ: Biochemical consequences of mutations causing the GM2 gangliosidoses. Biochim Biophys Acta, 1999; 1455: 105–138.

  24. Hund E, Grau A, et al: Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings. J Neurol Sci, 1997; 145: 25–31.

  25. Neudorfer O, Pastores GM, et al: Late–onset Tay–Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients. Genet Med, 2005; 7: 119–123.

  26. Bisel B, Pavone FS, et al: GM1 and GM2 gangliosides: recent developments. Biomol Concepts, 2014; 5: 87–93.

  27. Chavany C, Jendoubi M: Biology and potential strategies for the treatment of GM2 gangliosidoses. Mol Med Today, 1998; 4: 158–165.

  28. 衛藤　薫，伊藤　康，他：Niemann–Pick病C型の神経症候学．神経内科，2014; 80: 640–647.

  29. 鈴木衣子，斉藤祐子，他：Niemann–Pick病C型の神経病理．神経内科，2014; 80: 632–639.

  30. Saito Y, Suzuki K, et al: Niemann–Pick type C disease: accelerated neurofibrillary tangle formation and amyloid beta deposition associated with apolipoprotein E epsilon 4 homozygosity. Ann Neurol, 2002; 52: 351–355.

  31. 野口篤子，髙橋　勉：Niemann–Pick病C型の治療．神経内科，2014; 80: 658–666.

  32. Austin J, McAfee D, et al: Low sulfatase activities in metachromatic leukodystrophy (MLD). A controlled study of enzymes in 9 living and 4 autopsied patients with MLD. Trans Am Neurol Assoc, 1964; 89: 147–150.

  33. Gieselmann V: Metachromatic leukodystrophy: recent research developments. J Child Neurol, 2003; 18: 591–594.

  34. Kondo R, Wakamatsub N, et al: Identification of a mutation in the arylsulfatase A gene of a patient with adult–type metachromatic leukodystrophy. Am J Hum Genet, 1991; 48: 971–978.

  35. Honke K, Kobayashi T, et al: An adult–type metachromatic leukodystrophy caused by substitution of serine for glycine–122 in arylsulfatase A. Hum Genet, 1993; 92: 451–456.

  36. Batzios SP, Zafeiriou DI: Developing treatment options for metachromatic leukodystrophy. Mol Genet Metab, 2012; 105: 56–63.

  37. Kolodny EH, Raghavan S, et al: Late–onset Krabbe disease (globoid cell leukodystrophy): clinical and biochemical features of 15 cases. Dev Neurosci, 1991; 13: 232–239.

  38. Suzuki K: Globoid cell leukodystrophy (Krabbe’s disease): update. J Child Neurol, 2003; 18: 596–603.

  39. Xu C, Sakai N, et al: Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype–phenotype correlation. J Hum Genet, 2006; 51: 548–554.

  40. Debs R, Froissart R, et al: Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review. J Inherit Metab Dis, 2013; 36: 859–868.

  41. Wang C, Melberg A, et al: The earliest MR imaging and proton MR spectroscopy abnormalities in adult–onset Krabbe disease. Acta Neurol Scand, 2007; 116: 268–272.

  42. Durand P, Gatti R, et al: Sialidosis (mucolipidosis I). Helv Paediatr Acta, 1977; 32: 391–400.

  43. Rapin I, Goldfischer S, et al: The cherry–red spot–myoclonus syndrome. Ann Neurol, 1978; 3: 234–242.

  44. Kelly TE, Graetz G: Isolated acid neuraminidase deficiency: a distinct lysosomal storage disease. Am J Med Genet, 1977; 1: 31–46.

  45. Winter RM, Swallow DM, et al: Sialidosis type 2 (acid neuraminidase deficiency): clinical and biochemical features of a further case. Clin Genet, 1980; 18: 203–210.

  46. Suzuki Y, Nakamura N, et al: Beta–galactosidase deficiency in juvenile and adult patients: report of six Japanese cases and review of literature. Hum Genet, 1977; 36: 219–229.

  47. Shimmoto M, Fukuhara Y, et al: Protective protein gene mutations in galactosialidosis. J Clin Invest, 1993; 91: 2393–2398.

  48. Takano T, Shimmoto M, et al: Galactosialidosis: clinical and molecular analysis of 19 Japanese patients. Brain Dysfunction, 1991; 4: 271–280.

  49. Yamagishi A, Tomatsu S, et al: Mucopolysaccharidosis type I: identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations. Hum Mutat, 1996; 7: 23–29.

  50. Wraith JE, Rogers JG, et al: The mucopolysaccharidoses. Aust Paediat J, 1987; 23: 329–334.

  51. Cleary MA, Wraith JE: The presenting features of mucopolysaccharidosis type IH (Hurler syndrome). Acta Paediat, 1995; 84: 337–339.

  52. Lee C, Dineen TE, et al: The mucopolysaccharidoses: characterization by cranial MR imaging. Am J Neuroradiol, 1993; 14: 1285–1292.

  53. Wraith JE: The mucopolysaccharidoses: a clinical review and guide to management. Arch Dis Child, 1995; 72: 263–267.

  54. Ochiai T, Ito K, et al: Significance of extensive Mongolian spots in Hunter’s syndrome. Brit J Derm, 2003; 148: 1173–1178.

  55. Sukegawa K, Tomatsu, S et al: Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate–2–sulfatase gene in Japanese patients. Hum Mutat, 1995; 6: 136–143.

  56. Wraith JE, Scarpa M, et al: Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Europ J Pediat, 2008; 67: 267–277.

  57. Chinawa J, Adimora G, et al: Clinical presentation of mucopolysaccharidosis Type II (Hunter’s Syndrome). Ann Med Health Sci Res, 2012; 2: 87–90.

  58. Tanaka A, Kimura M, et al: Molecular analysis of the α–N–acetylglucosaminidasegene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations. J Hum Genet, 2002; 47: 484–487.

  59. Yogalingam G, Hopwood JJ: Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: diagnostic, clinical, and biological implications. Hum Mutat, 2001; 18: 264–281.

  60. Valstar MJ, Ruijter GJ, et al: Sanfilippo syndrome: a mini review. J Inherit Metab Dis, 2008; 31: 240–252.

  61. Mosser J, Douar AM, et al: Putative X–linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters. Nature, 1993; 361: 726–730.

  62. Schaumburg HH, Powers JM, et al: Adrenoleukodystrophy. A clinical and pathological study of 17 cases. Arch Neurol, 1975; 32: 577–591.

  63. Moser HW: Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy. Brain, 1997; 120: 1485–1508.

  64. Powers JM, DeClero DP, et al: Adrenomyeloneuropathy: a neuropathologic review featuring its noninflammatory myelopathy. J Neuropathol Exp Neurol, 2000; 59: 89–102.

  65. Loes DJ, Hite S, et al: Adrenoleukodystrophy: a scoring method for brain MR observations. AJNR Am J Neuroradiol, 1994; 15: 1761–1766.

  66. Moser AB, Kreiter N, et al: Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls. Ann Neurol, 1999; 45: 100–110.

  67. Shapiro E, Krivit W, et al: Long–term effect of bone–marrow transplantation for childhood–onset cerebral X–linked adrenoleukodystrophy. Lancet, 2000; 356: 713–718.

  68. 松川敬志，辻　省次：副腎白質ジストロフィーの治療．神経内科，2011; 74: 550–553.