Sporadic transthyretin amyloidosis with a novel TTR gene mutation misdiagnosed as primary amyloidosis

Journal of Neurology

Volumn 259, Issue 10, 2012, Pages 2226-2228

  Briani, Chiara ^a   Cavallaro, Tiziana ^b   Ferrari, Sergio ^b   Taioli, Federica ^b   Calamelli, Sara ^c   Verga, Laura ^d   Adami, Fausto ^a   Fabrizi, Gian Maria ^b  

^a UNIVERSITY OF PADOVA   (Italy)

^b UNIVERSITY OF VERONA   (Italy)

^c Mirano Hospital   (Italy)

^d UNIVERSITY OF PAVIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BORTEZOMIB; DEXAMETHASONE; IMMUNOGLOBULIN LIGHT CHAIN; MELPHALAN;

AGED; AMYLOIDOSIS; AUTOSOMAL DOMINANT TRANSTHYRETIN AMYLOIDOSIS; CARDIOMYOPATHY; CARPAL TUNNEL SYNDROME; CASE REPORT; CORONARY ARTERY DISEASE; DIAGNOSTIC ERROR; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; FAMILIAL AMYLOIDOSIS; GENE; GENE MUTATION; HEART FAILURE; HEART MUSCLE BIOPSY; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOGOLD ELECTRON MICROSCOPY; IMMUNOHISTOCHEMISTRY; LETTER; MALE; MONOCLONAL IMMUNOGLOBULINEMIA; MUTATIONAL ANALYSIS; NERVE BIOPSY; NEUROLOGIC EXAMINATION; NEUROPHYSIOLOGY; NON INSULIN DEPENDENT DIABETES MELLITUS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SENSORY NEUROPATHY; SURAL NERVE; TTR GENE;

AGED; AMYLOID NEUROPATHIES, FAMILIAL; AMYLOIDOSIS; BIOPSY; CARDIOMYOPATHY, RESTRICTIVE; CORONARY ARTERY DISEASE; DIABETES MELLITUS, TYPE 2; DIAGNOSTIC ERRORS; HUMANS; IMMUNOHISTOCHEMISTRY; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; PREALBUMIN;

EID: 84867328342     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-012-6529-z     Document Type: Letter

References (8)

1. Merlini G, Seldin DC, Gertz MA (2011) Amyloidosis: pathogenesis and new therapeutic options. J Clin Oncol 29:1924-1933
2. Benson MD, Kincaid JC (2007) The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve 36:411-423
3. Rapezzi C, Quarta CC, Riva L, Longhi S, Gallelli I, Lorenzini M et al (2010) Transthyretin-related amyloidoses and the heart: a clinical overview. Nat Rev Cardiol 7:398-408
4. Lachmann HJ, Booth DR, Booth SE, Bybee A, Gilbertson JA, Gillmore JD et al (2002) Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. N Engl J Med 346:1786-1791
5. 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
6. Arbustini E, Verga L, Concardi M, Palladini G, Obici L, Merlini G (2002) Electron and immuno-electron microscopy of abdominal fat identifies and characterizes amyloid fibrils in suspected cardiac amyloidosis. Amyloid 9:108-114
7. Palaninathan SK, Mohamedmohaideen NN, Orlandini E, Ortore G, Nencetti S, Lapucci A et al (2009) Novel transthyretin amyloid fibril formation inhibitors: synthesis, biological evaluation, and X-ray structural analysis. PLoS ONE 4:e6290
8. Klein CJ, Vrana JA, Theis JD, Dyck PJ, Dyck JB, Spinner RJ et al (2011) Amyloid neuropathy type is distinguished by mass spectrometric based proteomic analysis of nerve tissue. Arch Neurol 68:195-199