Transthyretin-related familial amyloidotic polyneuropathy: Description of a cohort of patients with Leu64 mutation and late onset

Journal of the Peripheral Nervous System

Volumn 17, Issue 4, 2012, Pages 385-390

  Russo, Massimo ^a   Mazzeo, Anna ^a   Stancanelli, Claudia ^a   Di Leo, Rita ^a   Gentile, Luca ^a   Di Bella, Gianluca ^b   Minutoli, Fabio ^c   Baldari, Sergio ^c   Vita, Giuseppe ^a  

^a UNIVERSITY OF MESSINA   (Italy)

^b Clinical and Experimental Department of Medicine and Pharmacology   (Italy)

^c UNIVERSITY OF MESSINA   (Italy)

Author keywords

amyloidosis; familial amyloid polyneuropathy; Leu64; transthyretin; TTR FAP

Indexed keywords

ADULT; AGED; ARTICLE; AUTONOMIC DYSFUNCTION; BLOOD ANALYSIS; CARPAL TUNNEL SYNDROME; CLINICAL ARTICLE; DISEASE COURSE; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; ELECTROMYOGRAPHY; ELECTRONEUROGRAPHY; FAMILIAL AMYLOID POLYNEUROPATHY; FEMALE; FOLLOW UP; GENE MUTATION; HUMAN; MALE; NEUROLOGIC EXAMINATION; PREVALENCE; PRIORITY JOURNAL; SENSORY NEUROPATHY; TRANSTHYRETIN RELATED FAMILIAL AMYLOIDOTIC POLYNEUROPATHY;

AGE OF ONSET; AGED; AGED, 80 AND OVER; AMYLOID NEUROPATHIES, FAMILIAL; AUTONOMIC NERVOUS SYSTEM DISEASES; BIOPSY; COHORT STUDIES; DIPHOSPHONATES; DISEASE PROGRESSION; ELECTROMYOGRAPHY; FEMALE; FOLLOW-UP STUDIES; HEREDITARY SENSORY AND MOTOR NEUROPATHY; HUMANS; LEUCINE; MALE; MIDDLE AGED; MUSCLE WEAKNESS; MUTATION; NEUROLOGIC EXAMINATION; ORGANOTECHNETIUM COMPOUNDS; PHENOTYPE; PREALBUMIN; RADIOPHARMACEUTICALS;

EID: 84872860623     PISSN: 10859489     EISSN: 15298027     Source Type: Journal    
DOI: 10.1111/j.1529-8027.2012.00436.x     Document Type: Article

References (31)

1. Adams D, (2001). Hereditary and acquired amyloid neuropathies. J Neurol 248: 647-657.
2. Adams D, Lozeron P, Theaudin M, Mincheva Z, Cauquil C, Adam C, Signate A, Vial C, Maisonobe T, Delmont E, Franques J, Vallat JM, Sole G, Pereon Y, Lacour A, Echaniz-Laguna A, Misrahi M, Lacroix C, French Network for FAP (2012). Regional difference and similarity of familial amyloidosis with polyneuropathy in France. Amyloid 19: 61-64.
3. Ando Y, Nakamura M, Araki S, (2005). Transthyretin-related familial amyloidotic polyneuropathy. Arch Neurol 62: 1057-1062.
4. Araki S, Ando Y, (2010). Transthyretin-related familial amyloidotic polyneuropathy-Progress in Kumamoto, Japan (1967-2010). Proc Jpn Acad Ser B Phys Biol Sci 86: 694-706.
5. Benson MD, Kincaid JC, (2007). The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve 36: 411-423.
6. Cappellari M, Cavallaro T, Ferrarini M, Cabrini I, Taioli F, Ferrari S, Merlini G, Obici L, Briani C, Fabrizi GM, (2011). Variable presentations of TTR-related familial amyloid polyneuropathy in seventeen patients. J Peripher Nerv Syst 16: 119-129.
7. Di Leo R, Musumeci O, de Gregorio C, Recupero A, Grimaldi P, Messina C, Coglitore S, Vita G, Toscano A, (2007). Evidence of cardiovascular autonomic impairment in mitochondrial disorders. J Neurol 254: 1498-1503.
8. 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.
9. Graceffa A, Russo M, Vita GL, Toscano A, Dattola R, Messina C, Vita G, Mazzeo A, (2009). Psychosocial impact of presymptomatic genetic testing for transthyretin amyloidotic polyneuropathy. Neuromuscul Disord 19: 44-48.
10. 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.
11. Ikeda S, (2007). Is familial amyloid polyneuropathy rare? DNA testing is changing the concept of this disease. Neurology 69: 627-628.
12. Kimura J, (2001). Electrodiagnosis in Diseases of Nerve and Muscle: Principles and Practice, 3rd Edn. Oxford University Press, New York, pp 326-327.
13. Koike H, Sobue G, (2012). Late-onset familial amyloid polyneuropathy in Japan. Amyloid 19: 55-57.
14. Liu JY, Jiang XM, Zhang M, Guo YJ, (2012). Analysis of mitochondrial haplogroups associated with TTR Val30Ala familial amyloidotic polyneuropathy in Chinese patients. Int J Neurosci 122: 716-718.
15. Luigetti M, Conte A, Del Grande A, Bisogni G, Madia F, Lo Monaco M, Laurenti L, Obici L, Merlini G, Sabatelli M, (2012). TTR-related amyloid neuropathy: clinical, electrophysiological and pathological findings in 15 unrelated patients. Neurol Sci May 17, Epub ahead of print.
16. Malik S, Winney RJ, Ewing DJ, (1986). Chronic renal failure and cardiovascular autonomic function. Nephron 43: 191-195.
17. McLeod JG, Tuck RR, (1987). Disorders of the autonomic nervous system part 2. Investigation and treatment. Ann Neurol 21: 519-529.
18. 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). Late-onset familial amyloid polyneuropathy type I (transthyretin Met30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. Clinicopathological and genetic features. Brain 122: 1951-1962.
19. Perugini E, Guidalotti PL, Salvi F, Cooke RM, Pettinato C, Riva L, Leone O, Farsad M, Ciliberti P, Bacchi-Reggiani L, Fallani F, Branzi A, Rapezzi C, (2005). Noninvasive etiologic diagnosis of cardiac amyloidosis using 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy. J Am Coll Cardiol 46: 1076-1084.
20. Planté-Bordeneuve V, Said G, (2011). Familial amyloid polyneuropathy. Lancet Neurol 10: 1086-1097.
21. Planté-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.
22. Planté-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.
23. Puille M, Altland K, Linke RP, Steen-Muller MK, Kiett R, Steiner D, Bauer R, (2002). 99mTc-DPD scintigraphy in transthyretin-related familial amyloidotic polyneuropathy. Eur J Nucl Med 29: 376-379.
24. Reilly MM, Staunton H, Harding AE, (1995). Familial amyloid polyneuropathy (TTR ala 60) in north west Ireland: a clinical, genetic, and epidemiological study. J Neurol Neurosurg Psychiatry 59: 45-49.
25. Salvi F, Pastorelli F, Plasmati R, Bartolomei I, Dall'osso D, Rapezzi C, (2012). Genotypic and phenotypic correlation in an Italian population of hereditary amyloidosis TTR-related (HA-TTR): clinical and neurophysiological aids to diagnosis and some reflections on misdiagnosis. Amyloid 19: 58-60.
26. Schiller NB, Shah PM, Crawford M, DeMaria A, Devereux R, Feigenbaum H, Gutgesell H, Reichek N, Sahn D, Schnittger I, et al,. (1989). Recommendations for quantitation of the left ventricle by two dimensional echocardiography. American Society of Echocardiography Committee on Standards, Subcommittee on Quantitation of Two-Dimensional Echocardiograms. J Am Soc Echocardiogr 2: 358-367.
27. Tashima K, Ando Y, Ando E, Tanaka Y, Ando M, Uchino M, (1997). Heterogeneity of clinical symptoms in patients with familial amyloidotic polyneuropathy (FAP TTR Met30). Amyloid 4: 108-111.
28. Vita G, Princi P, Calabro R, Toscano A, Manna L, Messina C, (1986). Cardiovascular reflex tests. Assessment of age-adjusted normal range. J Neurol Sci 75: 263-274.
29. Vita G, Princi P, Messina C, (1991). Multivariate analysis of cardiovascular reflexes applied to the diagnosis of autonomic neuropathy. J Neurol 238: 251-255.
30. Vita G, Mazzeo A, Di Leo R, Ferlini A, (2005). Recurrent syncope as persistently isolated feature of transthyretin amyloidotic polyneuropathy. Neuromuscul Disord 15: 259-261.
31. Zeldenrust SR, (2012). Genotype-phenotype correlation in FAP. Amyloid 19: 22-24.