Transthyretin TYR77 familial amyloid polyneuropathy: A clinicopathological study of a large kindred
1998; Wiley; Volume: 21; Issue: 11 Linguagem: Inglês
10.1002/(sici)1097-4598(199811)21
ISSN1097-4598
AutoresC Blanco-Jerez, Adriano Jiménez‐Escrig, J M Gobernado, Silvia López-Calvo, Gema de Blas, Clara Redondo, Mercedes Garc�a Villanueva, Luís M. Orensanz,
Tópico(s)Peptidase Inhibition and Analysis
ResumoMuscle & NerveVolume 21, Issue 11 p. 1478-1485 Transthyretin TYR77 familial amyloid polyneuropathy: A clinicopathological study of a large kindred Carmen R. Blanco-Jerez BS, Carmen R. Blanco-Jerez BS S. de Neurobiología, Hospital Ramón y Cajal, Carret. de Colmenar Km 9, 28034 Madrid, SpainSearch for more papers by this authorAdriano Jiménez-Escrig MD, PhD, Corresponding Author Adriano Jiménez-Escrig MD, PhD S. de Neurología, Hospital Ramón y Cajal, Carret. de Colmenar Km 9, 28034 Madrid, SpainS. de Neurología, Hospital Ramón y Cajal, Carret. de Colmenar Km 9, 28034 Madrid, SpainSearch for more papers by this authorJose M. Gobernado MD, PhD, Jose M. Gobernado MD, PhD S. de Neurología, Hospital Ramón y Cajal, Carret. de Colmenar Km 9, 28034 Madrid, SpainSearch for more papers by this authorSilvia Lopez-Calvo MD, Silvia Lopez-Calvo MD S. de Neurología, Hospital Ramón y Cajal, Carret. de Colmenar Km 9, 28034 Madrid, SpainSearch for more papers by this authorGema De Blas MD, Gema De Blas MD S. de Neurofisiología, Hospital Ramón y Cajal, Carret. de Colmenar Km 9, 28034 Madrid, SpainSearch for more papers by this authorClara Redondo MD, Clara Redondo MD S. de Anatomía Patológica, Hospital Ramón y Cajal, Carret. de Colmenar Km 9, 28034 Madrid, SpainSearch for more papers by this authorMercedes García Villanueva MD, Mercedes García Villanueva MD S. de Anatomía Patológica, Hospital Ramón y Cajal, Carret. de Colmenar Km 9, 28034 Madrid, SpainSearch for more papers by this authorLuis Orensanz PhD, Luis Orensanz PhD S. de Neurobiología, Hospital Ramón y Cajal, Carret. de Colmenar Km 9, 28034 Madrid, SpainSearch for more papers by this author Carmen R. Blanco-Jerez BS, Carmen R. Blanco-Jerez BS S. de Neurobiología, Hospital Ramón y Cajal, Carret. de Colmenar Km 9, 28034 Madrid, SpainSearch for more papers by this authorAdriano Jiménez-Escrig MD, PhD, Corresponding Author Adriano Jiménez-Escrig MD, PhD S. de Neurología, Hospital Ramón y Cajal, Carret. de Colmenar Km 9, 28034 Madrid, SpainS. de Neurología, Hospital Ramón y Cajal, Carret. de Colmenar Km 9, 28034 Madrid, SpainSearch for more papers by this authorJose M. Gobernado MD, PhD, Jose M. Gobernado MD, PhD S. de Neurología, Hospital Ramón y Cajal, Carret. de Colmenar Km 9, 28034 Madrid, SpainSearch for more papers by this authorSilvia Lopez-Calvo MD, Silvia Lopez-Calvo MD S. de Neurología, Hospital Ramón y Cajal, Carret. de Colmenar Km 9, 28034 Madrid, SpainSearch for more papers by this authorGema De Blas MD, Gema De Blas MD S. de Neurofisiología, Hospital Ramón y Cajal, Carret. de Colmenar Km 9, 28034 Madrid, SpainSearch for more papers by this authorClara Redondo MD, Clara Redondo MD S. de Anatomía Patológica, Hospital Ramón y Cajal, Carret. de Colmenar Km 9, 28034 Madrid, SpainSearch for more papers by this authorMercedes García Villanueva MD, Mercedes García Villanueva MD S. de Anatomía Patológica, Hospital Ramón y Cajal, Carret. de Colmenar Km 9, 28034 Madrid, SpainSearch for more papers by this authorLuis Orensanz PhD, Luis Orensanz PhD S. de Neurobiología, Hospital Ramón y Cajal, Carret. de Colmenar Km 9, 28034 Madrid, SpainSearch for more papers by this author First published: 07 December 1998 https://doi.org/10.1002/(SICI)1097-4598(199811)21:11 3.0.CO;2-XCitations: 17AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat Abstract More than 40 point mutations (producing different clinical manifestations) have been described in diverse points of the plasma protein transthyretin (TTR). The Met30 is considered the most common mutation, the Tyr77 mutation being the second most prevalent. However, data from patients with this late mutation are scarce, and usually come from isolated case reports or tables. The Tyr77 mutation is not as well characterized as the Met30 mutation, especially with respect to such aspects as prognosis or possible treatment by liver transplantation. We therefore present the clinical and pathological features of an extensive family with the Tyr77 TTR mutation, comprising 12 affected individuals over four generations. Six living individuals were followed over a 10-year period. Retrospective data were obtained with regard to the deceased family members. We found that an initial and sometimes prolonged carpal tunnel syndrome, beginning between the 6th and 7th decades, characterizes the Tyr77 mutation. In most cases this evolved to generalized peripheral nerve involvement, restrictive cardiomyopathy, and intestinal malabsortion. Although survival is usually high, there are progressive cases that should be candidates for liver transplant, before severe impairment has developed. © 1998 John Wiley & Sons, Inc. Muscle Nerve 21: 1478–1485, 1998 Citing Literature Volume21, Issue11November 1998Pages 1478-1485 RelatedInformation
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