Familial transthyretin-type amyloid polyneuropathy in Japan: Clinical and genetic heterogeneity

Neurology

Volumn 58, Issue 7, 2002, Pages 1001-1007

  Ikeda, Shu Ichi ^a   Nakazato, Masamitsu ^b   Ando, Yukio ^c   Sobue, Gen ^d  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b UNIVERSITY OF MIYAZAKI   (Japan)

^c KUMAMOTO UNIVERSITY   (Japan)

^d NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID; PREALBUMIN;

AMYLOID NEUROPATHY; ENDEMIC DISEASE; FAMILIAL DISEASE; GENE MUTATION; HEART AMYLOIDOSIS; HUMAN; JAPAN; LIVER TRANSPLANTATION; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SEX DIFFERENCE;

EID: 0037046222     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.58.7.1001     Document Type: Review

References (81)

1. A peculiar form of peripheral neuropathy: Familial atypical generalized amyloidosis with special involvement of the peripheral nerves
2. A study of 159 Portuguese patients with familial amyloidotic polyneuropathy (FAP) whose parents were both unaffected
3. Polyneurotic amyloidosis in a Japanese family
4. Familial amyloidosis with polyneuropathy
5. Amyloid fibril protein related to prealbumin in familial amyloidotic polyneuropathy
6. Amyloid fibril protein in type I familial amyloidotic polyneuropathy in Japanese
7. Identification of amyloid prealbumin variant in familial amyloidotic polyneuropathy (Japanese type)
8. Tabulation of transthyretin (TTR) variants as of 1/1/2000
9. Radioimmunoassay for detecting abnormal prealbumin in the serum for diagnosis of familial amyloidotic polyneuropathy (Japanese type)
10. Diagnosis of familial amyloidotic polyneuropathy by recombinant DNA techniques
11. 30→Leu) associated with familial amyloidotic polyneuropathy
12. Simple detection of abnormal serum transthyretin from patients with familial amyloidotic polyneuropathy by high-performance liquid chromatography/electrospray ionization mass spectrometry using material precipitated with specific antiserum
13. Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy
14. Gastrointestinal amyloid deposition in familial amyloid polyneuropathy
15. Diagnostic value of abdominal fat tissue aspirate in familial amyloid polyneuropathy
16. A new focus of familial amyloid polyneuropathy
17. Studies on familial amyloid polyneuropathy in Ogawa village, Japan
18. Genetic and clinical studies of Japanese patients with familial amyloid polyneuropathy
19. Hereditary generalized amyloidosis with polyneuropathy. Clinicopathological study of 65 Japanese patients
20. A pedigree analysis with minimized ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy
21. Late-onset familial amyloid polyneuropathy type I (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. Clinicopathological and genetic features
22. 50 to Arg)
23. 114 to Cys) deduced from the nucleotide sequences of gene fragments from familial amyloidotic polyneuropathy in Japanese siblings cases
24. A novel compound heterozygote (FAP ATTR Arg104His/ATTR Val30Met) with high serum transthyretin (TTR) and retinol binding protein (RBP) levels
25. Familial amyloid polyneuropathy with the transthyretin Cys 114 gene in a Japanese kindred
26. A new amyloidogenic transthyretin variant [D38A] detected by electrospray ionization/mass spectrometry
27. Postmortem findings in two familial amyloidosis patients with transthyretin variant Asp38Ala
28. Familial carpal tunnel syndrome due to amyloidogenic transthyretin His 114 variant
29. Nodular cutaneous amyloidosis and carpal tunnel syndrome due to the amyloidogenic transthyretin His 114 variant
30. Transthyretin Thr60Ala Appalachian-type mutation in a Japanese family with familial amyloidotic polyneuropathy
31. Peripheral nerve pathological findings in familial amyloid polyneuropathy: A correlative study of proximal sciatic and sural nerve lesions
32. Vagus nerve and celiac ganglion lesions in generalized amyloidosis. A correlative study of familial amyloid polyneuropathy and AL-amyloidosis
33. 30Val→Met): Transthyretin-amyloid deposits in the hypoglossal nerve root
34. Late onset type I familial amyloidotic polyneuropathy: Presentation of three autopsy cases in comparison with 19 autopsy cases of the ordinary type
35. A case of hereditary amyloidosis transthyretin variant Met 30 with amyloid cardiomyopathy, less polyneuropathy, and the presence of giant cells
36. Histochemical study of rectal aminergic nerves in type I familial amyloid polyneuropathy
37. Homozygosity for the transthyretin-Met30 gene in three Japanese siblings with type I familial amyloidotic polyneuropathy
38. Asymptomatic homozygous gene carrier in a family with type I familial amyloid polyneuropathy
39. A case of familial amyloidotic polyneuropathy homozygous for the transthyretin Val30Met gene with motor dominant sensorimotor polyneuropathy and unusual sural nerve pathologic findings
40. Two Spanish sibs with familial amyloidotic polyneuropathy homozygous for the V30M-TTR gene
41. Vitreous amyloidosis associated with homozygosity for the transthyretin methionine-30 gene
42. New mutant gene (transthyretin Arg 58) in cases with hereditary polyneuropathy detected by non-isotope method of single-strand conformation polymorphism analysis
43. Transthyretin-type cerebral amyloid angiopathy in type I familial amyloid polyneuropathy
44. Portuguese polyneuritic familial type of amyloidosis
45. Massive leptomeningeal amyloidosis associated with a Val30Met transthyretin gene
46. Echocardiographic assessment of the evolution of amyloid heart disease: A study with familial amyloid polyneuropathy
47. Early identification of amyloid heart disease by technetium-99m-pyrophosphate scintigraphy: A study with familial amyloid polyneuropathy
48. Amyloid polyneuropathy with transthyretin Arg50 in a Japanese case from Osaka
49. An aggressive familial amyloidotic polyneuropathy caused by a new variant transthyretin Lys 54
50. Type and distribution of pulmonary parenchymal and vascular amyloid. Correlation with cardiac amyloidosis
51. Pulmonary amyloidosis. The Mayo Clinic experience from 1980 to 1993
52. Familial amyloidotic polyneuropathy (ATTR Ser50Ile): The first autopsy case report
53. Hereditary amyloidosis: Description of a new American kindred with late onset cardiomyopathy. Appalachian amyloid
54. Transthyretin amyloidosis: A new mutation associated with dementia
55. Familial meningocerebrovascular amyloidosis, Hungarian type, with mutant transthyretin (TTR Asp18Gly)
56. Demonstration of transthyretin mRNA in the brain and other extrahepatic tissues
57. 30)
58. Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis
59. Liver transplantation in familial amyloidotic polyneuropathy
60. Improvement in the polyneuropathy associated with familial amyloid polyneuropathy after liver transplantation
61. The course and prognostic factors of familial amyloid polyneuropathy after liver transplantation
62. Early liver transplantation is essential for familial amyloidotic polyneuropathy patients' quality of life
63. A case of familial amyloid polyneuropathy treated with partial liver transplantation using a graft from a living related donor
64. Partial liver transplantation from living donors in familial amyloid polyneuropathy
65. Temporary auxiliary liver transplantation from a living donor to an adult recipient with familial amyloid polyneuropathy
66. Partial-liver transplantation to treat familial amyloid polyneuropathy: Follow-up of 11 patients
67. Recurrent cerebral embolism in a familial amyloid polyneuropathy patient who received partial liver transplantation from a living donor
68. De novo amyloid synthesis in ocular tissue in familial amyloidotic polyneuropathy after liver transplantation
69. Vitreous amyloidosis after liver transplantation in patients with familial amyloid polyneuropathy: Ocular synthesis of mutant transthyretin
70. Progression of ventricular wall thickening after liver transplantation for familial amyloidosis
71. Progressive cardiac amyloidosis following liver transplantation for familial amyloid polyneuropathy
72. Fibril in senile systemic amyloidosis is derived from normal transthyretin
73. Cardiac amyloid in patients with familial amyloid polyneuropathy consists of abundant wild-type transthyretin
74. 42 gene
75. A novel transthyretin mutation associated with familial amyloidotic polyneuropathy
76. Identification of a new transthyretin variant (Ile49) in familial amyloidotic polyneuropathy using electrospray ionization mass spectrometry and nonisotope RNase cleavage assay
77. 61→Lys) causes familial amyloidotic polyneuropathy: Protein and DNA sequencing and PCR-induced mutation restriction analysis
78. 97 to Gly)
79. Detection of three transthyretin gene mutations in familial amyloidotic polyneuropathy by analysis of DNA extracted from formalin-fixed and paraffin-embedded tissues