Familial amyloid polyneuropathy. A clinico-pathologic study

Journal of the Neurological Sciences

Volumn 284, Issue 1-2, 2009, Pages 149-154

  Said, Gérard ^a   Planté Bordeneuve, Violaine ^b  

^a ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^b HENRI MONDOR HOSPITAL   (France)

Author keywords

Amyloidosis; Hereditary neuropathy; Liver transplantation; Neuropathology; Peripheral neuropathy

Indexed keywords

MUTANT PROTEIN; PREALBUMIN;

ADULT; ARTICLE; AUTONOMIC DYSFUNCTION; AUTOPSY; CHOROID PLEXUS; CLINICAL ARTICLE; DYSAUTONOMIA; ENDONEURIUM; FAMILIAL AMYLOID POLYNEUROPATHY; FEMALE; GENE MUTATION; GENERAL CONDITION DETERIORATION; HUMAN; HUMAN TISSUE; LIMB WEAKNESS; LIVER TRANSPLANTATION; MALE; MUSCLE ATROPHY; NERVE BIOPSY; NERVE POTENTIAL; PARESTHESIA; PRIORITY JOURNAL; QUADRIPLEGIA; SENSORIMOTOR NEUROPATHY; SENSORY DYSFUNCTION;

ADULT; AGED; AMYLOID; AMYLOID NEUROPATHIES, FAMILIAL; BIOPSY; CHOROID PLEXUS; DISEASE PROGRESSION; FEMALE; HUMANS; LIVER TRANSPLANTATION; MALE; MENINGES; MIDDLE AGED; NERVE FIBERS, MYELINATED; NERVE FIBERS, UNMYELINATED; PERIPHERAL NERVES; PERONEAL NERVE; POINT MUTATION; PREALBUMIN; SUBARACHNOID SPACE;

EID: 67849092275     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2009.05.001     Document Type: Article

References (27)

1. Andrade C. A peculiar form of peripheral neuropathy: familial atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain 75 (1952) 408-427
2. Reilly M.M., Adams D., Booth D.R., Davis M.B., Saïd G., Laubriat-Bianchin M., et al. Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy. Brain 118 (1995) 849-856
3. Ikeda S., Nakazato M., Ando Y., and Sobue G. Familial transthyretin-type amyloid polyneuropathy in Japan. Clinical and genetic heterogeneity. Neurology 58 (2002) 1001-1007
4. Sousa A., Andersson R., Drugge U., Holmgren G., and Sandgren O. F amilial amyloidotic polyneuropathy in Sweden: geographical distribution and age of onset, and prevalence. Hum Hered 43 (1993) 288-294
5. Dyck P.J., and Lambert E.H. Dissociated sensation in amyloidosis. Compound action potential, quantitative histologic and teased-fibre, and electron microscopic studies of sural nerve biopsies. Arch Neurol 20 (1969) 490-507
6. Thomas P.K., and King R.H.M. Peripheral nerve changes in amyloid neuropaty. Brain 99 (1974) 1-10
7. Said G., Ropert A., and Faux N. Length dependent degeneration of fibres in Portuguese amyloid polyneuropathy. A clinicopathological study. Neurology 34 (1984) 1025-1032
8. Sharma P., Perri R.E., Sirven J.E., Zeldenrust S.R., Brandhagen D.J., and Rosen C.B. Outcome of liver transplantation for familial amyloidotic polyneuropathy. Liver Transpl 9 (2003) 1273-1280
9. Planté-Bordeneuve V., Ferreira A., Lalu T., Zaros C., Lacroix C., and Said G. Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP). Neurology 69 (2007) 627-628
10. Vidal R., Garzuly F., Budka T.H., Lalowski M., Linke R.P., and Brittig F. Meningocerebrovascular amyloidosis associated with a novel transthyretin mis-sense mutation at codon 18 (TTRD18G). Am J Pathol 148 (1996) 361-366
11. Yazak M., Take Y.I., Katoh M., and Ikeda S.I. Postmortem findings in two familial amyloidosis patients with transthyretin variant Asp38Ala. Amyloid 7 (2000) 270-277
12. Petersen R.B., Goren H., Cohen M., Richardson S.L., Tresser N., and Lynn A. Transthyretin amyloidosis: a new mutation associated with dementia. Ann Neurol 41 (1997) 307-313
13. Brett M., Persey M.R., Reilly M.M., Revesz T., Booth D.R., and Hawkins P.N. Transthyretin Leu12Pro is associated with systemic, neuropathic and leptomeningeal amyloidosis. Brain 122 (1999) 183-190
14. Nakamura M., Yamashita T., Ueda M., Obyashi K., Sato T., and Ikeda T. Neuroradiologic and clinicopathologic features of oculoleptomeningeal type amyloidosis. Neurology 65 (2005) 1051-1056
15. Herrick M.K., DeBruyne K., Horoupian D.S., Skar J., Vanefsky M.A., and Ong T. Massive leptomeningeal amyloidosis associated with a Val30Met transthyretin gene. Neurology 47 (1996) 988-992
16. Yoshinaga T., Takei Y., Katayanagi K., and Ikeda S. Postmortem findings in a familial amyloid polyneuropathy patient with homozygosity of the mutant Val30Met transthyretin gene. Amyloid 11 (2004) 56-60
17. Sandgren O., Kjellgren D., and Suhr O.B. Ocular manifestations in liver transplant recipients with familial amyloid polyneuropathy. Acta Ophthalmol 65 (2008) 520-524
18. Manzo R.P., Gomez D.G., and Potts D.G. Cerebrospinal fluid absorption in the rabbit. Inner ear pathways. Acta Otolaryngol 109 (1990) 389-396
19. Pettersson C.A. Drainage of molecules from subarachnoid space to spinal nerve roots and peripheral nerve of the rat. A study based on Evans blue-albumin and lanthanum as tracers. Acta Neuropathol 86 (1993) 636-644
20. Johanson C.E., Duncan III J.A., Klinge P.M., Brinker T., Stopa E.G., and Silverberg G.D. Multiplicity of cerebrospinal fluid functions: new challenges in health and disease. Cerebrospinal Fluid Res 5 (2008) 10. http://creativecommons.org/licenses/by/2.0 Open Access article http://creativecommons.org/licenses/by/2.0
21. Weiss P., Wang H., Taylor A.C., and Edds M.V. Proximo-distal fluid convection in the endoneurial spaces of peripheral nerves, demonstrated by colored and radioactive (isotope) tracers. Am J Physiol 143 (1945) 521-540
22. Myers R.R., Rydevik B.L., Heckman H.M., and Powell H.C. Proximodistal gradient in endoneurial fluid pressure. Exp Neurol 102 (1988) 368-370
23. Yamamoto S., Wilczek H.E., Iwata T., Larsson M., Gjertsen H., Söderdahl G., et al. Long-term consequences of domino liver transplantation using familial amyloidotic polyneuropathy grafts. Transpl Int 20 (2007) 921-923
24. Yazaki M., Mitsuhashi S., Tokuda T., Kametani F., Takei Y.I., Koyama J., et al. Progressive wild-type transthyretin deposition after liver transplantation preferentially occurs onto myocardium in FAP patients. Am J Transpl 7 (2007) 235-242
25. Benson M.D. Leptomeningeal amyloid and variant transthyrethin. Am J Pathol 148 (1996) 351-354
26. Ando Y., Terazaki H., Nakamura M., Ando E., Haraoka K., and Yamashita T. A different amyloid formation mechanism: de novo oculoleptomeningeal amyloid deposits after liver transplantation. Transplantation 77 (2004) 345-349
27. Ando Y., and Jono H. Pathogenesis and therapy for transthyretin related amyloidosis. Rinsho Byori 56 (2008) 114-120