Hereditary transthyretin amyloidosis in middle-aged and elderly patients with idiopathic polyneuropathy: a nationwide prospective study

被引：1

作者：

Fargeot, Guillaume ^{[1
]}

Echaniz-Laguna, Andoni ^{[1
,2
,3
]}

Labeyrie, Celine ^{[1
,2
]}

Svahn, Juliette ^{[4
]}

Camdessanche, Jean-Philippe ^{[5
,8
]}

Cintas, Pascal ^{[6
]}

Chanson, Jean-Baptiste ^{[7
]}

Esselin, Florence ^{[9
]}

Piedvache, Celine ^{[10
]}

Verstuyft, Celine ^{[11
]}

Genestet, Steeve ^{[12
]}

Lagrange, Emmeline ^{[13
]}

Magy, Laurent ^{[14
]}

Pereon, Yann ^{[15
]}

Sacconi, Sabrina ^{[16
]}

Signate, Aissatou ^{[17
]}

Nadaj-Pakleza, Aleksandra ^{[7
,8
]}

Taithe, Frederic ^{[18
]}

Viala, Karine ^{[19
]}

Tard, Celine ^{[20
]}

Poinsignon, Vianney ^{[21
]}

Cauquil, Cecile ^{[1
,2
]}

Attarian, Shahram ^{[22
]}

Adams, David ^{[1
,2
]}

机构：

[1] CHU Bicetre, AP HP, Neurol Dept, Le Kremlin Bicetre, France

[2] French Natl Reference Ctr Rare Neuropathies NNERF, Le Kremlin Bicetre, France

[3] Paris Saclay Univ, Inserm U1195, Le Kremlin Bicetre, France

[4] Hosp Civils Lyon, Pierre Wertheimer Hosp, Electroneuromyog & Neuromuscular Dept, Lyon, France

[5] Univ Hosp St Etienne, Dept Neurol, St Etienne, France

[6] CHU Toulouse, Pierre Paul Riquet Hosp, AOC Atlant Occitanie Caraibes Reference Ctr Neurom, Dept Neurol, Toulouse, France

[7] CHU Strasbourg, Neurol Dept, Strasbourg, France

[8] Neuromuscular Reference Ctr Nord Est Ile France NE, Strasbourg, France

[9] CHU & Univ Montpellier, Explorat Neurol & Ctr SLA, INSERM, Montpellier, France

[10] Hop Bicetre, Unite Rech Clin Paris Saclay, Le Kremlin Bicetre, France

[11] Hop Bicetre, AP HP, Ctr Ressources Biol Paris Saclay, GH Paris Saclay,Serv Genet Mol Pharmacogenet & Hor, Le Kremlin Bicetre, France

[12] Univ Hosp Brest, Reference Ctr Neuromuscular Dis AOC, Brest, France

[13] Grenoble Alpes Univ Hosp, Dept Neurol, Grenoble, France

[14] CHU Limoges, Hop Dupuytren, Ctr Reference Neuropathies Peripher Rares, Serv Neurol,NNerf,UR 20218 NeurIT, Limoges, France

[15] CHU Nantes, Reference Ctr Neuromuscular Dis AOC, Euro NMD, Filnemus, Nantes, France

[16] Univ Hosp Nice CHU, Neuromuscular Dis Ctr, Dept Clin Neurosci, Nice, France

[17] CHU Martinique, Univ Hosp Martinique, Dept Neurol, Fort De France, France

[18] CHU Clermont Ferrand Gabriel Montpied Hosp, Univ Hosp Clermont Ferrand, Dept Neurol, Clermont Ferrand, FT, France

[19] Sorbonne Univ, Pitie Salpetriere Hosp, AP HP, Neurophysiol Dept, Paris, France

[20] CHU Lille, Ctr Reference Malad Neuromusculaires Nord Est Ile, U1172, Lille, France

[21] Hop Univ Paris Saclay, Hop Bicetre, AP HP, Serv Genet Mol Pharmacogenet & Hormonol Bicetre, Saclay, France

[22] CHU Timone, AP HM, Ctr Reference Malad Neuromusculaires & SLA, Marseille, France

来源：

AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS | 2024年 / 31卷 / 01期

关键词：

Amyloidosis; epidemiology; neuropathy; transthyretin; TTR gene;

D O I：

10.1080/13506129.2023.2270661

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Background: Hereditary transthyretin amyloidosis (ATTRv) is an adult-onset autosomal dominant disease resulting from TTR gene pathogenic variants. ATTRv often presents as a progressive polyneuropathy, and effective ATTRv treatments are available. Methods: In this 5 year-long (2017-2021) nationwide prospective study, we systematically analysed the TTR gene in French patients with age >50 years with a progressive idiopathic polyneuropathy. Results: 553 patients (70% males) with a mean age of 70 years were included. A TTR gene pathogenic variant was found in 15 patients (2.7%), including the Val30Met TTR variation in 10 cases. In comparison with patients with no TTR gene pathogenic variants (n = 538), patients with TTR pathogenic variants more often presented with orthostatic hypotension (53 vs. 21%, p = .007), significant weight loss (33 vs 11%, p = .024) and rapidly deteriorating nerve conduction studies (26 vs. 8%, p = .03). ATTRv diagnosis led to amyloid cardiomyopathy diagnosis in 11 cases, ATTRv specific treatment in all cases and identification of 15 additional ATTRv cases among relatives. Conclusion: In this nationwide prospective study, we found ATTRv in 2.7% of patients with age >50 years with a progressive polyneuropathy. These results are highly important for the early identification of patients in need of disease-modifying treatments.

引用

页码：62 / 69

页数：8

共 22 条

[21] Screening for genetic mutations in patients with neuropathy without definite etiology is useful
Vogt, Braden
Chahin, Nizar
Wiszniewski, Wojciech
Ragole, Thomas
Karam, Chafic
[J]. JOURNAL OF NEUROLOGY, 2020, 267 (09) : 2648 - 2654
[22] Biodegradable near-infrared-photoresponsive shape memory implants based on black phosphorus nanofillers
Xie, Hanhan
Shao, Jundong
Ma, Yufei
Wang, Jiahong
Huang, Hao
Yang, Na
Wang, Huaiyu
Ruan, Changshun
Luo, Yanfeng
Wang, Qu-Quan
Chu, Paul K.
Yu, Xue-Feng
[J]. BIOMATERIALS, 2018, 164 : 11 - 21

← 1 2 3 →