Muscular amyloid angiopathy with amyloidgenic transthyretin Ser50lle and Tyr114Cys

Muscle and Nerve

Volumn 31, Issue 1, 2005, Pages 41-45

  Yamashita, Taro ^a   Ando, Yukio ^a   Katsuragi, Shoichi ^b   Nakamura, Masaaki ^a   Obayashi, Konen ^a   Haraoka, Katsuki ^a   Ueda, Mitsuharu ^a   Xuguo, Sun ^a   Okamoto, Sadahisa ^a   Uchino, Makoto ^a  

^a KUMAMOTO UNIVERSITY   (Japan)

^b National Hospital Organization   (Japan)

Author keywords

Amyloid angiopathy; Amyotrophy; Familial amyloid polyneuropathy; Liver transplantation; Transthyretin

Indexed keywords

PREALBUMIN;

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILIAL AMYLOID POLYNEUROPATHY; FEMALE; HUMAN; HUMAN TISSUE; MALE; MOTOR NERVE; MUSCLE ATROPHY; MUSCLE DENERVATION; MUSCLE INNERVATION; MUSCLE WEAKNESS; MYOPATHY; NEUROPATHOLOGY; PATHOPHYSIOLOGY; PRIORITY JOURNAL; VASCULAR AMYLOIDOSIS;

ADULT; AMYLOID NEUROPATHIES, FAMILIAL; BIOPSY; CAPILLARIES; FEMALE; HUMANS; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR ATROPHY; NERVE REGENERATION; POINT MUTATION; PREALBUMIN;

EID: 19944429576     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/mus.20185     Document Type: Article

References (20)

1. Ando Y, Tanaka Y, Ando E, Yamashita T, Nishida Y, Tashima K, Suga M, Uchino M, Ando M. Effect of liver transplantation on autonomic dysfunction in familial amyloidotic polyneuropathy type I. Lancet 1995;345:195-196.
2. Andrade C. A peculiar form of peripheral neuropathy. Familial atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain 1952;75:408-427.
3. Askanas V, Engel WK, Alvarez RB, Frangione B, Ghiso J, Vidal R. Inclusion body myositis, muscle blood vessel and cardiac amyloidosis, and transthyretin Val122Ile allele. Ann Neurol 2000;47:544-549.
4. Benson MD, Dwulet FE. Identification of carriers of a variant plasma prealbumin (transthyretin) associated with familial amyloidotic polyneuropathy type I. J Clin Invest 1985;75:71-75.
5. Bruni J, Bilbao JM, Pritzker PH. Myopathy associated with amyloid angiopathy. Can J Neurol Sci 1977;4:77-80.
6. Cadavid D, Mena H, Koeller K, Frommelt RA. Cerebral beta amyloid angiopathy is a risk factor for cerebral ischemic infarction. A case control study in human brain biopsies. J Neuropathol Exp Neurol 2000;59:768-773.
7. Claudio L. Ultrastructural features of the blood-brain barrier in biopsy tissue from Alzheimer's disease patients. Acta Neuropathol 1996;91:6-14.
8. Fiszman ML, Di Egidio M, Ricart KC, Repetto MG, Borodinsky LN, Llesuy SF, Saizar RD, Trigo PL, Riedstra S, Costa PP, Villa AM, Katz N, Lendoire JC, Sica RE. Evidence of oxidative stress in familial amyloidotic polyneuropathy type 1. Arch Neurol 2003;60:593-597.
9. Glenner GG. Amyloid deposits and amyloidosis. The beta-fibrilloses. N Engl J Med 1980;302:1283-1292.
10. Koike H, Misu K, Ikeda S, Ando Y, Nakazato M, Ando E, Yamamoto M, Hattori N, Sobue G.. Study Group for Hereditary Neuropathy in Japan. Type I (transthyretin Met30) familial amyloid polyneuropathy in Japan: early- vs late-onset form. Arch Neurol 2002;59:1771-1776.
11. Rubin DI, Hermann RC. Electrophysiologic findings in amyloid myopathy. Muscle Nerve 1999;22:355-359.
12. Saeki Y, Ueno S, Takahashi N, Soga F, Yanagihara T. A novel mutant (transthyretin Ile-50) related to amyloid polyneuropathy. Single-strand conformation polymorphism as a new genetic marker. FEBS Lett 1992;308:35-37.
13. Sakashita N, Ando Y, Obayashi K, Terazaki H, Yamashita T, Takei M, Kinjo M, Takahashi K. Familial amyloidotic polyneuropathy (ATTR Ser50Ile): the first autopsy case report. Virchows Archiv 2000;436:345-350.
14. Saraiva MJ. Transthyretin mutations in hyperthyroxinemia and amyloid diseases. Hum Mutation 2001;17:493-503.
15. Smestad C, Monstad P, Lindboe CF, Mygland A. Amyloid myopathy presenting with distal atrophic weakness. Muscle Nerve 2004;29:605-609.
16. Spuler S, Emslie-Smith A, Engel AG. Amyloid myopathy: an underdiagnosed entity. Ann Neurol 1998;43:719-728.
17. Takahashi K, Ti S, Kimura Y, Araki S. Familial amyloidotic polyneuropathy type 1 in Kumamoto, Japan: a clinicopathologic, histochemical, immunohistochemical, and ultrastructural study. Hum Pathol 1991;22:519-527.
18. Ueno S, Fujimura H, Yorifuji S, Nakamura Y, Takahashi M, Tarui S, Yanagihara T. Familial amyloid polyneuropathy associated with the transthyretin Cys114 gene in a Japanese kindred. Brain 1992;115:1275-1289.
19. Vinters HV, Secor DL, Read SL, Frazee JG, Tomiyasu U, Stanley TM, Ferreiro JA, Akers MA. Microvasculature in brain biopsy specimens from patients with Alzheimer's disease: an immunohistochemical and ultrastructural study. Ultrastr Pathol 1994;18:333-348.
20. Yamashita T, Ando Y, Bernt Suhr O, Nakamura M, Sakashita N, Ohlsson PI, Terazaki H, Obayashi K, Uchino M, Ando M. A new diagnostic procedure to detect unknown transthyretin (TTR) mutations in familial amyloidotic polyneuropathy (FAP). J Neurol Sci 2000;173:154-159.