Postmortem pathological findings in a Japanese patient with familial amyloidosis, Finnish type (FAF)

Amyloid

Volumn 3, Issue 2, 1996, Pages 134-139

  Makishita, Hideo ^a   Ikeda, Shu Ichi ^b   Yazaki, Masahide ^b   Yamane, Michio ^a   Yumoto, Ko Kichi ^a   Maury, C P J ^c   Yanagisawa, Nobuo ^b  

^a Hokushin General Hospital   (Japan)

^b SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c UNIVERSITY OF HELSINKI   (Finland)

Author keywords

Amyloid; Cranial polyneuropathy; Familial amyloidosis; Gelsolin; protein

Indexed keywords

EID: 0000221666     PISSN: 13506129     EISSN: None     Source Type: Journal    
DOI: 10.3109/13506129609014366     Document Type: Article

References (28)

1. Meretoja J (1969). Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. A previously unrecognized heritable syndrome. Ann Clin Res 1, 314-324
2. Maury CPJ, Alli K, Baumann M (1990). Finnish hereditary amyloidosis. Amino acid sequence homology between amyloid fibril protein and human plasma gelsoline. FEBS Lett 260, 85-87
3. Maury CPJ (1991). Gelsolin-related amyloidosis. Identification of the amyloid protein in Finnish hereditary amyloidosis as a fragmnent of variant gelsolin. J Clin Invest 87, 1195-1199
4. Maury CPJ (1991). Immunohistochemical localization of amyloid in Finnish hereditary amyloidosis with antibodies to gelsolin peptides. Lab Invest 64, 400-404
5. de la Chapelle A, Tolvanen R, Boysen G, Santavy J, Bleeker-Wagenmakers L, Maury CPJ and Kere J (1992). Gelsolin-derived familial amyloidosis caused by asparaginre or tyrosine substitution for aspartic acid at residue 187. Nature Genet 2, 157-160
6. Levy E, Haltia M, Ferenandez-Madrid I, Koivunen O, Ghiso J, Prelli F and Frangione B (1990). Mutation in gelsolin gene in Finnish hereditary amyloidosis. J Exp Med 172, 1865-1867
7. Maury CPJ, Kere J, Tol vanen R and de la Chapelle A (1990). Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene. FEBS Lett 276, 75-77
8. Meretoja J (1973). Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy. Clin Genet 4, 173-185
9. Winkelman JE, Delleman JW and Ansink BJJ (1971). Ein hereditares Syndrom, bestehend aus peripherer Polyneuropathie, Hautveranderungen und gittriger Dystrophie der Hornhaut. Klin Monatsbl Augenheilkd 159, 618-623
10. Boysen G, Galassi G, Kamieniecka Z, Schlaeger J and Trojaborg W (1979). Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy. J Neurol Neurosurg Psychiatry 42, 1020-1030
11. Sack GH, Dumarks KW, Gummerson KS, Law A and McKusick VA (1981). Three forms of dominant amyloid neuropathy. Johns Hopkins Med J 149, 239-247
12. Purcell JJ Jr, Rodrigues M, Chishti I, Riner RN and Dooley JM (1983). Lattice comeal dystrophy associated with familial systemic amyloidosis (Meretoja's syndrome). Opthalmology 90, 1512-1517
13. Darras BT, Adelman LS, Mora JS, Bodziner RA and Munsat TL (1986). Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy. Neurology 36, 432-435
14. Starck T, Kenyon KR, Hanninen LA, Beyer-Machule C, Fabian R, Gorn RA, McMullan FD, Baum J and McAdams KPWJ (1991). Clinical and histopathologic studies of two families with lattice corneal dystrophy and familial systemic amyloidosis (Meretoja syndrome). Opthalmology 98, 1197-1206
15. Sunada Y, Shimizu T, Nakase H, Ohta S, Asaoka T, Amano S, Sawa M, Kagawa Y, Kanazawa I and Mannen T (1993). Inherited amyloid polyneuropathy type IV (gelsolin variant) in a Japanese family. Ann Neurol 33, 57-62
16. Makishita H, Yazaki M, Matsuda M, Ikeda S and Yanagisawa N (1994). Familial amyloid polyneuropathy type IV (Finnish type). A Clinicopathological study. Clin Neurol (Tokyo) 34, 431-437
17. Ikeda S, Allsop D and Glenner GG (1989). Morphology and distribution of plaque and related deposits in the brains of Alzheimer's disease and control cases. An immunohistochemical study using amyloid β-protein antibody. Lab Invest 60, 113-122
18. Allsop D, Landon M, Kidd M, Lowe JS, Reynolds GP and Gardner A (1986). Monoclonal antibodies raised against a subsequence of senile plaque core protein react with plaque core, plaque periphery and cerebrovascular amyloid in Alzheimer's disease. Neurosci Lett 68, 252-256
19. Cohen AS and Rubinow A (1984). Amyloid neuropathy. In: Dyck PJ, Thomas PK, Lambert EH, Bunge R (eds.) Peripheral Neuropathy pp. 1866-1898. (Philadelphia: Saunders)
20. Kiuru S (1992). Familial amyloidosis of the Finnish type (FAF). A clinical study of 30 patients. Acta Neurol Scand 86, 346-353
21. Reilly MM and King RHM (1993). Familial amyloid polyneuropathy. Brain Pathol 3, 165-176
22. Meretoja J and Teppo L (1971). Histopathological findings of familial amyloidosis with cranial neuropathy as principal manifestation. Report on three cases. Acta Pathol Micrabiol Scand Section A 79, 432-440
23. Ikeda S, Hanyu N, Kongo M, Yoshioka J, Oguchi H, Yanagisawa N, Kobayashi T, Tsukagoshi H, Ito N and Yokota T (1987). Hereditary generalized amyloidosis with polyneuropathy. Clinicopathological study of 65 Japanese patients. Brain 110, 315-337
24. Hanyu N, Ikeda S, Nakadai A, Yanagisawa N and Powell HC (1989). Peripheral nerve pathological findings in familial amyloid polyneuropathy. A correlative study of proximal sciatic nerve and sural nerve lesions. Ann Neurol 25, 340-350
25. Yin HL, Kwiatkowski DJ, Mole JE and Cole FS (1984). Structure and biosynthesis of cytoplasmic and secreted variants of gelsolin. J Biol Chem 259, 5271-5276
26. Kiuru S, Seppalainen A-M, Salonen O, Hokkanen L, Somer H and Palo J (1995). CNS abnormalities in patients with familial amyloidosis, Finnish type (FAF). Amyloid: Int J Exp Clin Invest 2, 22-30
27. Paunio T, Kiuru S, Karonen S-L, Palo J and Peltonen L (1994). Quantification of serum and cerebrospinal fluid gelsolin in familial amyloidosis, Finnish type (AGel). Amyloid: Int J Exp Clin Invest 1, 80-89
28. Haltia M, Ghiso J, Wisniewski T, Kiuru S, Miller D and Frangione B (1991). Gelsolin variant and β-amyloid co-occur in a case of Alzheimer's with Lewy bodies. Neurabiol Aging 12, 313-316