FAP Neuropathy and Emerging Treatments

被引:54
作者
Adams, David [1 ,2 ,4 ]
Theaudin, Marie [1 ,2 ,4 ]
Cauquil, Cecile [1 ,2 ]
Algalarrondo, Vincent [1 ,3 ,4 ]
Slama, Michel [1 ,4 ]
机构
[1] Univ Paris Sud, HUPS, APHP, F-94275 Le Kremlin Bicetre, France
[2] CHU Bicetre, Dept Neurol, F-94275 Le Kremlin Bicetre, France
[3] CHU Antoine Beclere, Dept Cardiol NNERf, Clamart, France
[4] French Referral Ctr Familial Amyloid Polyneuropat, INSERM, U788, Paris, France
关键词
Familial amyloid polyneuropathy; Transthyretin; Nonmutant; Mutant; Mutations; Late onset; Sporadic; Diagnosis; Nerve biopsy; Labial salivary gland biopsy; TTR gene analysis; Liver transplantation; Tafamidis; RNAi therapy; Antisense oligonucleotide; Genetic counseling; Anticipation; Heterogeneity; Pacemaker; Domino liver transplantation; FAMILIAL AMYLOID POLYNEUROPATHY; LIVER-TRANSPLANTATION; TRANSTHYRETIN AMYLOIDOSIS; CARDIAC INVOLVEMENT; ONSET; JAPAN; HEREDITARY; PRESENTATIONS; EPIDEMIOLOGY; DENERVATION;
D O I
10.1007/s11910-013-0435-3
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Transthyretin familial amyloid polyneuropathy (TTR-FAP) classically presents as a length dependent small fiber polyneuropathy in endemic countries like Portugal. In nonendemic countries, it may mimic a variety of chronic polyneuropathies, with several phenotypes: ataxic, upper limb onset neuropathy, or motor. In these cases, there is usually a late onset and no positive family history. TTR gene sequencing appears the most pertinent first-line test for diagnosis. Cardiac involvement of various severities is common in FAP. Liver transplantation remains the standard antiamyloid therapy with better results in Val30Met TTR-FAP of early onset. Antiamyloid medication has been developed. (1) TTR stabilizers: Tafamidis was the first drug approved in Europe in stage 1 (walking unaided) TTR-FAP to slow progression of the disease; diflunisal has been assessed in a phase 3 clinical trial; (2) TTR gene silencing is a new strategy to inhibit production of both mutant and nonmutant TTR with antisense oligonucleotides or SiRNA (2 ongoing phase 3 clinical trials).
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共 69 条
[1]   Clinical development of an antisense therapy for the treatment of transthyretin-associated polyneuropathy [J].
Ackermann, Elizabeth J. ;
Guo, Shuling ;
Booten, Sheri ;
Alvarado, Luis ;
Benson, Merrill ;
Hughes, Steve ;
Monia, Brett P. .
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, 2012, 19 :43-44
[2]   Symptomatic and proven de novo amyloid polyneuropathy in familial amyloid polyneuropathy domino liver recipients [J].
Adams, D. ;
Lacroix, C. ;
Antonini, T. ;
Lozeron, P. ;
Denier, C. ;
Kreib, A. M. ;
Epelbaum, S. ;
Blandin, F. ;
Karam, V. ;
Azoulay, D. ;
Adam, R. ;
Castaing, D. ;
Samuel, D. .
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, 2011, 18 :174-177
[3]   Hereditary and acquired amyloid neuropathies [J].
Adams, D .
JOURNAL OF NEUROLOGY, 2001, 248 (08) :647-657
[4]   The course and prognostic factors of familial amyloid polyneuropathy after liver transplantation [J].
Adams, D ;
Samuel, D ;
Goulon-Goeau, C ;
Nakazato, M ;
Costa, PMP ;
Feray, C ;
Planté, V ;
Ducot, B ;
Ichai, P ;
Lacroix, C ;
Metral, S ;
Bismuth, H ;
Said, G .
BRAIN, 2000, 123 :1495-1504
[5]   Amyloid neuropathies [J].
Adams, David ;
Lozeron, Pierre ;
Lacroix, Catherine .
CURRENT OPINION IN NEUROLOGY, 2012, 25 (05) :564-572
[6]   Regional difference and similarity of familial amyloidosis with polyneuropathy in France [J].
Adams, David ;
Lozeron, Pierre ;
Theaudin, Marie ;
Mincheva, Zoia ;
Cauquil, Cecile ;
Adam, Clovis ;
Signate, Aissatou ;
Vial, Christophe ;
Maisonobe, Thierry ;
Delmont, Emilien ;
Franques, Jerome ;
Vallat, Jean-Michel ;
Sole, Guilhem ;
Pereon, Yann ;
Lacour, Arnaud ;
Echaniz-Laguna, Andoni ;
Misrahi, Micheline ;
Lacroix, Catherine .
AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, 2012, 19 :61-64
[7]   Prophylactic pacemaker implantation in familial amyloid polyneuropathy [J].
Algalarrondo, Vincent ;
Dinanian, Sylvie ;
Juin, Christophe ;
Chemla, Denis ;
Bennani, Soumiya L. ;
Sebag, Claude ;
Plante, Violaine ;
Le Guludec, Dominique ;
Samuel, Didier ;
Adams, David ;
Slama, Michel S. .
HEART RHYTHM, 2012, 9 (07) :1069-1075
[8]   Circadian rhythm of blood pressure reflects the severity of cardiac impairment in familial amyloid polyneuropathy [J].
Algalarrondo, Vincent ;
Eliahou, Ludivine ;
Thierry, Isabelle ;
Bouzeman, Abdeslam ;
Dasoveanu, Madalina ;
Sebag, Claude ;
Moubarak, Ghassan ;
Le Guludec, Dominique ;
Samuel, Didier ;
Adams, David ;
Dinanian, Sylvie ;
Slama, Michel S. .
ARCHIVES OF CARDIOVASCULAR DISEASES, 2012, 105 (05) :281-290
[9]   Reversibility of Acquired Amyloid Polyneuropathy After Liver Retransplantation [J].
Antonini, T. M. ;
Lozeron, P. ;
Lacroix, C. ;
Mincheva, Z. ;
Durrbach, A. ;
Slama, M. ;
Vibert, E. ;
Samuel, D. ;
Adams, D. .
AMERICAN JOURNAL OF TRANSPLANTATION, 2013, 13 (10) :2734-2738
[10]   Transthyretin-related familial amyloidotic polyneuropathy -Progress in Kumamoto, Japan (1967-2010)- [J].
Araki, Shukuro ;
Ando, Yukio .
PROCEEDINGS OF THE JAPAN ACADEMY SERIES B-PHYSICAL AND BIOLOGICAL SCIENCES, 2010, 86 (07) :694-706