Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients

Journal of the Peripheral Nervous System

Volumn 16, Issue 2, 2011, Pages 119-129

  Cappellari, Manuel ^a   Cavallaro, Tiziana ^a   Ferrarini, Moreno ^a   Cabrini, Ilaria ^a   Taioli, Federica ^a   Ferrari, Sergio ^a   Merlini, Giampaolo ^b   Obici, Laura ^b   Briani, Chiara ^c   Fabrizi, Gian Maria ^a  

^a UNIVERSITY HOSPITAL OF VERONA   (Italy)

^b UNIVERSITY OF PAVIA   (Italy)

^c UNIVERSITY OF PADOVA   (Italy)

Author keywords

Amyloid; Familial amyloid polyneuropathy; Transthyretin

Indexed keywords

AMYLOID; PREALBUMIN;

ADULT; AGED; ARTICLE; BULBAR PARALYSIS; CARPAL TUNNEL SYNDROME; CLINICAL ARTICLE; DYSAUTONOMIA; FAMILIAL AMYLOID POLYNEUROPATHY; FASCICULATION; FEMALE; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; NERVE BIOPSY; NERVE CONDUCTION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN CEREBROSPINAL FLUID LEVEL; RETROSPECTIVE STUDY; SENSORIMOTOR NEUROPATHY; SENSORY NEUROPATHY; TTR GENE; BIOPSY; DIFFERENTIAL DIAGNOSIS; ELECTROPHYSIOLOGY; GENETICS; MIDDLE AGED; MOTOR NEURON DISEASE; MUTATION; PATHOPHYSIOLOGY; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYRADICULONEUROPATHY;

ADULT; AGED; AGED, 80 AND OVER; AMYLOID NEUROPATHIES, FAMILIAL; BIOPSY; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; ELECTROPHYSIOLOGY; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; MOTOR NEURON DISEASE; MUTATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING; PREALBUMIN; RETROSPECTIVE STUDIES;

EID: 80054847815     PISSN: 10859489     EISSN: 15298027     Source Type: Journal    
DOI: 10.1111/j.1529-8027.2011.00331.x     Document Type: Article

References (22)

1. Ando Y, NakamuraM, Araki S (2005). Transthyretin-related familial amyloidotic polyneuropathy. Arch Neurol 62:1057-1062. (Pubitemid 41043725)
2. Arpesella G, Chiappini B, Marinelli G, Mikus PM, Dozza F, Pierangeli A, Magelli C, Salvi F, Leone O (2003). Combined heart and liver transplantation for familial amyloidotic polyneuropathy. J Thorac Cardiovasc Surg 125: 1165-1166. (Pubitemid 36644899)
3. Benson MD, Kincaid JC (2007). The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve 36:411-423. (Pubitemid 47512065)
4. Comenzo RL, Zhou P, Fleisher M, Clark B, Teruya-Feldstein J (2006). Seeking confidence in the diagnosis of systemic AL (Ig light-chain) amyloidosis: patients can have both monoclonal gammopathies and hereditary amyloid proteins. Blood 107:3489-3491.
5. Conceic̃ao I, De Carvalho M (2007). Clinical variability in type 1 familial amyloid polyneuropathy (Val30Met): comparison between late- and early-onset cases in Portugal. Muscle Nerve 35:116-118. (Pubitemid 46052658)
6. Dattilo PB (2009). Familial (ATTR) amyloidosis misdiagnosed as the primary (AL) variant: a case report. Cases J 2:9295.
7. Ferlini A, Salvi F, Uncini A, El-Chami J, Winter P, Altland K, Repetto M, Littardi M, Campoleoni A, Vezzoni P, Patrosso MC (1996). Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings. Clin Genet 49:10-14. (Pubitemid 26090406)
8. Hund E, Linke RP, Willig F, Grau A (2001). Transthyretinassociated neuropathic amyloidosis. Pathogenesis and treatment. Neurology 56:431-435. (Pubitemid 32172863)
9. Ii S, Minnerath S, Ii K, Dyck PJ, Sommer SS (1991). Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations. Neurology 41:893-898.
10. Jacobson DR, Pastore RD, Yaghoubian R, Kane I, Gallo G, Buck FS, Buxbaum JN (1997). Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans. N Engl J Med 336:466-473. (Pubitemid 27074357)
11. Koike H, Kawagashira Y, Iijima M, Yamamoto M, Hattori N, Tanaka F, Hirayama M, Ando Y, Ikeda S, Sobue G (2008). Electrophysiological features of late-onset transthyretin Met30 familial amyloid polyneuropathy unrelated to endemic foci. J Neurol 255:1526-1533.
12. Koike H, Misu K, Sugiura M, Iijima M, Mori K, Yamamoto M, Hattori N, Mukai E, Ando Y, Ikeda S, Sobue G (2004). Pathology of early- vs late-onset TTR Met30 familial amyloid polyneuropathy. Neurology 63:129-138. (Pubitemid 38943790)
13. Lachmann HJ, Booth DR, Booth SE, Bybee A, Gilbertson JA, Gillmore JD, Pepys MB, Kawkins PN (2002). Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. N Engl J Med 346:1786-1791. (Pubitemid 34586914)
14. Lavatelli F, Perlman DH, Spencer B, Prokaeva T, McComb ME, Théberge R, Connors LH, Bellotti V, Seldin DC, Merlini G, SkinnerM, Costello CE (2008). Amyloidogenic and associated proteins in systemic amyloidosis proteome of adipose tissue. Mol Cell Proteomics 7:1570-1583.
15. Misu K, Hattori N, Nagamatsu M, Ikeda S, Ando Y, Nakazato M, Takei Y, Hanyu N, Usui Y, Tanaka F, Harada T, Inukai A, Hashizume Y, Sobue G (1999). Lateonset familial amyloid polyneuropathy type 1 (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. Clinicopathological and genetic features. Brain 122:1951-1962. (Pubitemid 29473866)
16. Plantè -Bordeneuve V, Ferreira A, Lalu T, Zaros C, Lacroix C, Adams D, Said G (2007). Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP). Neurology 69:693-698. (Pubitemid 47256013)
17. Plantè -Bordeneuve V, Lalu T, Misrahi M, Reilly MM, Adams D, Lacroix C, Said G (1998). Genotypic-phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy. Neurology 51:708-714. (Pubitemid 28449247)
18. Reilly MM, Adams D, Booth DR, Davis MB, Said G, Laubriat-Bianchin M, Pepys MB, Thomas PK, Harding AE (1995). Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy. Brain 118:849-856.
19. Tojo K, Tsuchiya-Suzuki A, Sekijima Y, Morita H, Sumita N, Ikeda S (2010). Upper limb neuropathy such as carpal tunnel syndrome as an initial manifestation of ATTR Val30Met familial amyloid polyneuropathy. Amyloid 17:32-35.
20. Vital C, Vital A, Bouillot-Eimer S, Brechenmacher C, Ferrer X, Lagueny A (2004). Amyloid neuropathy: a retrospective study of 35 peripheral nerve biopsies. J Peripher Nerv Syst 9:232-241. (Pubitemid 40105282)
21. Vrana JA, Gamez JD, Madden BJ, Theis JD, Bergen HR 3rd, Dogan A (2009). Classification of amyloidosis by laser microdissection and mass spectrometry-based proteomic analysis in clinical biopsy specimens. Blood 114:4957-4959.
22. Yang NC, Lee MJ, Chao CC, Chuang YT, Lin WM, Chang MF, Hsieh PC, Kan HW, Lin YH, Yang CC, Chiu MJ, Liou HH, Hsieh ST (2010). Clinical presentations and skin denervation in amyloid neuropathy due to transthyretin Ala97Ser. Neurology 75:532-538.