Rapid progression of familial amyloidotic polyneuropathy: a multinational natural history study.

Autor:	Adams D; From the National Reference Center for FAP (NNERF) (D.A., Z.M.), APHP, Univ Paris Sud, INSERM Unité 1195, Le Kremlin-Bicêtre, France; Hospital de Santo António (T.C.), Centro Hospitalar do Porto, Portugal; Amyloidosis Research and Treatment Center (L.O., G.M.), Foundation IRCCS Policlinico San Matteo and University of Pavia, Italy; Mayo Clinic (N.S., W.J.L., P.J.D.), Rochester, MN; and Alnylam Pharmaceuticals (B.R.B., J.A.G., P.J.G.), Cambridge, MA. david.adams@bct.aphp.fr., Coelho T; From the National Reference Center for FAP (NNERF) (D.A., Z.M.), APHP, Univ Paris Sud, INSERM Unité 1195, Le Kremlin-Bicêtre, France; Hospital de Santo António (T.C.), Centro Hospitalar do Porto, Portugal; Amyloidosis Research and Treatment Center (L.O., G.M.), Foundation IRCCS Policlinico San Matteo and University of Pavia, Italy; Mayo Clinic (N.S., W.J.L., P.J.D.), Rochester, MN; and Alnylam Pharmaceuticals (B.R.B., J.A.G., P.J.G.), Cambridge, MA., Obici L; From the National Reference Center for FAP (NNERF) (D.A., Z.M.), APHP, Univ Paris Sud, INSERM Unité 1195, Le Kremlin-Bicêtre, France; Hospital de Santo António (T.C.), Centro Hospitalar do Porto, Portugal; Amyloidosis Research and Treatment Center (L.O., G.M.), Foundation IRCCS Policlinico San Matteo and University of Pavia, Italy; Mayo Clinic (N.S., W.J.L., P.J.D.), Rochester, MN; and Alnylam Pharmaceuticals (B.R.B., J.A.G., P.J.G.), Cambridge, MA., Merlini G; From the National Reference Center for FAP (NNERF) (D.A., Z.M.), APHP, Univ Paris Sud, INSERM Unité 1195, Le Kremlin-Bicêtre, France; Hospital de Santo António (T.C.), Centro Hospitalar do Porto, Portugal; Amyloidosis Research and Treatment Center (L.O., G.M.), Foundation IRCCS Policlinico San Matteo and University of Pavia, Italy; Mayo Clinic (N.S., W.J.L., P.J.D.), Rochester, MN; and Alnylam Pharmaceuticals (B.R.B., J.A.G., P.J.G.), Cambridge, MA., Mincheva Z; From the National Reference Center for FAP (NNERF) (D.A., Z.M.), APHP, Univ Paris Sud, INSERM Unité 1195, Le Kremlin-Bicêtre, France; Hospital de Santo António (T.C.), Centro Hospitalar do Porto, Portugal; Amyloidosis Research and Treatment Center (L.O., G.M.), Foundation IRCCS Policlinico San Matteo and University of Pavia, Italy; Mayo Clinic (N.S., W.J.L., P.J.D.), Rochester, MN; and Alnylam Pharmaceuticals (B.R.B., J.A.G., P.J.G.), Cambridge, MA., Suanprasert N; From the National Reference Center for FAP (NNERF) (D.A., Z.M.), APHP, Univ Paris Sud, INSERM Unité 1195, Le Kremlin-Bicêtre, France; Hospital de Santo António (T.C.), Centro Hospitalar do Porto, Portugal; Amyloidosis Research and Treatment Center (L.O., G.M.), Foundation IRCCS Policlinico San Matteo and University of Pavia, Italy; Mayo Clinic (N.S., W.J.L., P.J.D.), Rochester, MN; and Alnylam Pharmaceuticals (B.R.B., J.A.G., P.J.G.), Cambridge, MA., Bettencourt BR; From the National Reference Center for FAP (NNERF) (D.A., Z.M.), APHP, Univ Paris Sud, INSERM Unité 1195, Le Kremlin-Bicêtre, France; Hospital de Santo António (T.C.), Centro Hospitalar do Porto, Portugal; Amyloidosis Research and Treatment Center (L.O., G.M.), Foundation IRCCS Policlinico San Matteo and University of Pavia, Italy; Mayo Clinic (N.S., W.J.L., P.J.D.), Rochester, MN; and Alnylam Pharmaceuticals (B.R.B., J.A.G., P.J.G.), Cambridge, MA., Gollob JA; From the National Reference Center for FAP (NNERF) (D.A., Z.M.), APHP, Univ Paris Sud, INSERM Unité 1195, Le Kremlin-Bicêtre, France; Hospital de Santo António (T.C.), Centro Hospitalar do Porto, Portugal; Amyloidosis Research and Treatment Center (L.O., G.M.), Foundation IRCCS Policlinico San Matteo and University of Pavia, Italy; Mayo Clinic (N.S., W.J.L., P.J.D.), Rochester, MN; and Alnylam Pharmaceuticals (B.R.B., J.A.G., P.J.G.), Cambridge, MA., Gandhi PJ; From the National Reference Center for FAP (NNERF) (D.A., Z.M.), APHP, Univ Paris Sud, INSERM Unité 1195, Le Kremlin-Bicêtre, France; Hospital de Santo António (T.C.), Centro Hospitalar do Porto, Portugal; Amyloidosis Research and Treatment Center (L.O., G.M.), Foundation IRCCS Policlinico San Matteo and University of Pavia, Italy; Mayo Clinic (N.S., W.J.L., P.J.D.), Rochester, MN; and Alnylam Pharmaceuticals (B.R.B., J.A.G., P.J.G.), Cambridge, MA., Litchy WJ; From the National Reference Center for FAP (NNERF) (D.A., Z.M.), APHP, Univ Paris Sud, INSERM Unité 1195, Le Kremlin-Bicêtre, France; Hospital de Santo António (T.C.), Centro Hospitalar do Porto, Portugal; Amyloidosis Research and Treatment Center (L.O., G.M.), Foundation IRCCS Policlinico San Matteo and University of Pavia, Italy; Mayo Clinic (N.S., W.J.L., P.J.D.), Rochester, MN; and Alnylam Pharmaceuticals (B.R.B., J.A.G., P.J.G.), Cambridge, MA., Dyck PJ; From the National Reference Center for FAP (NNERF) (D.A., Z.M.), APHP, Univ Paris Sud, INSERM Unité 1195, Le Kremlin-Bicêtre, France; Hospital de Santo António (T.C.), Centro Hospitalar do Porto, Portugal; Amyloidosis Research and Treatment Center (L.O., G.M.), Foundation IRCCS Policlinico San Matteo and University of Pavia, Italy; Mayo Clinic (N.S., W.J.L., P.J.D.), Rochester, MN; and Alnylam Pharmaceuticals (B.R.B., J.A.G., P.J.G.), Cambridge, MA.
Jazyk:	angličtina
Zdroj:	Neurology [Neurology] 2015 Aug 25; Vol. 85 (8), pp. 675-82. Date of Electronic Publication: 2015 Jul 24.
DOI:	10.1212/WNL.0000000000001870
Abstrakt:	Objectives: To assess the association between severity of neuropathy and disease stage, and estimate the rate of neuropathy progression in a retrospective cross-sectional analysis of a multinational population of patients with familial amyloidotic polyneuropathy (FAP). Methods: We characterize neuropathy severity and rate of progression in available patients with FAP in France, the United States, Portugal, and Italy. Neuropathy Impairment Scores (NIS), time from symptom onset to NIS measurement, polyneuropathy disability (PND) scores, FAP disease stage, and manual grip strength data were collected. We estimated neuropathy progression using Loess Fit and Gompertz Fit models. Results: For the 283 patients studied (mean age, 56.4 years), intercountry genotypic variation in the transthyretin (TTR) mutation was observed, with the majority of patients in Portugal (92%) having early-onset Val30Met-FAP. There was also marked intercountry variation in PND score, FAP stage, and TTR stabilizer use. NIS was associated with PND score (NIS 10 and 99 for scores I and IV, respectively; p < 0.0001) and FAP stage (NIS 14 and 99 for stages 1 and 3, respectively; p < 0.0001). In addition, there was an association between NIS and TTR genotype. The estimated rate of NIS progression for a population with a median NIS of 32 was 14.3 points/year; the corresponding estimated rate for the modified NIS+7 is 17.8 points/year. Conclusions: In a multinational population of patients with FAP, rapid neuropathic progression is observed and the severity of neuropathy is associated with functional scales of locomotion. (© 2015 American Academy of Neurology.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu