Literature DB >> 35098361

Can we identify hereditary TTR amyloidosis by the screening of carpal tunnel syndrome patients?

Daniele Severi1, Francesco Aruta1, Aniello Iovino1, Emanuele Spina1, Maria Nolano1, Fiore Manganelli1, Stefano Tozza2.   

Abstract

Hereditary TTR amyloidosis (ATTRv) is a progressive e disabling disease, leading to a gradual loss of ambulation and death. In the last decade, new treatments have drastically revolutionized natural history of disease, and they are more efficacious if precociously administered. However, diagnostic delay still represents an important challenge to resolve. We reported a case of two asymptomatic brothers that received a very precocious diagnosis of ATTRv thanks to the diagnosis of carpal tunnel syndrome. We proposed screening of the well-defined carpal tunnel syndrome to detect patients with ATTRv in a pre-symptomatic stage.
© 2021. Fondazione Società Italiana di Neurologia.

Entities:  

Keywords:  Amyloidosis; Carpal tunnel syndrome; Early diagnosis; TTR

Mesh:

Substances:

Year:  2022        PMID: 35098361     DOI: 10.1007/s10072-021-05851-6

Source DB:  PubMed          Journal:  Neurol Sci        ISSN: 1590-1874            Impact factor:   3.830


  14 in total

1.  Role of (99m)Tc-DPD scintigraphy in diagnosis and prognosis of hereditary transthyretin-related cardiac amyloidosis.

Authors:  Claudio Rapezzi; Candida C Quarta; Pier Luigi Guidalotti; Cinzia Pettinato; Stefano Fanti; Ornella Leone; Alessandra Ferlini; Simone Longhi; Massimiliano Lorenzini; Letizia Bacchi Reggiani; Christian Gagliardi; Pamela Gallo; Caterina Villani; Fabrizio Salvi
Journal:  JACC Cardiovasc Imaging       Date:  2011-06

2.  Ultrasound evaluation in transthyretin-related amyloid neuropathy.

Authors:  Giuseppe Granata; Marco Luigetti; Daniele Coraci; Alessandra Del Grande; Angela Romano; Giulia Bisogni; Placido Bramanti; Paolo Maria Rossini; Mario Sabatelli; Luca Padua
Journal:  Muscle Nerve       Date:  2014-06-16       Impact factor: 3.217

Review 3.  Hereditary transthyretin amyloidosis overview.

Authors:  Fiore Manganelli; Gian Maria Fabrizi; Marco Luigetti; Paola Mandich; Anna Mazzeo; Davide Pareyson
Journal:  Neurol Sci       Date:  2020-11-14       Impact factor: 3.307

Review 4.  Emerging therapies in transthyretin amyloidosis - a new wave of hope after years of stagnancy?

Authors:  Maximilian L Müller; Javed Butler; Bettina Heidecker
Journal:  Eur J Heart Fail       Date:  2020-01-07       Impact factor: 15.534

5.  Value of quantitative sensory testing in neurological and pain disorders: NeuPSIG consensus.

Authors:  Miroslav Misha Backonja; Nadine Attal; Ralf Baron; Didier Bouhassira; Mark Drangholt; Peter J Dyck; Robert R Edwards; Roy Freeman; Richard Gracely; Maija H Haanpaa; Per Hansson; Samar M Hatem; Elena K Krumova; Troels S Jensen; Christoph Maier; Gerard Mick; Andrew S Rice; Roman Rolke; Rolf-Detlef Treede; Jordi Serra; Thomas Toelle; Valeri Tugnoli; David Walk; Mark S Walalce; Mark Ware; David Yarnitsky; Dan Ziegler
Journal:  Pain       Date:  2013-06-03       Impact factor: 6.961

6.  Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations.

Authors:  Isabel Conceição; Thibaud Damy; Manuel Romero; Lucía Galán; Shahram Attarian; Marco Luigetti; Menachem Sadeh; Stayko Sarafov; Ivailo Tournev; Mitsuharu Ueda
Journal:  Amyloid       Date:  2019-02-22       Impact factor: 7.141

7.  Neurophysiological classification of carpal tunnel syndrome: assessment of 600 symptomatic hands.

Authors:  L Padua; M Lo Monaco; R Padua; B Gregori; P Tonali
Journal:  Ital J Neurol Sci       Date:  1997-06

8.  Sensory deficit in Parkinson's disease: evidence of a cutaneous denervation.

Authors:  Maria Nolano; Vincenzo Provitera; Anna Estraneo; Mona M Selim; Giuseppe Caporaso; Annamaria Stancanelli; Anna Maria Saltalamacchia; Bernardo Lanzillo; Lucio Santoro
Journal:  Brain       Date:  2008-05-31       Impact factor: 13.501

9.  Low Sensitivity of Bone Scintigraphy in Detecting Phe64Leu Mutation-Related Transthyretin Cardiac Amyloidosis.

Authors:  Maria Beatrice Musumeci; Francesco Cappelli; Domitilla Russo; Giacomo Tini; Marco Canepa; Agnese Milandri; Rachele Bonfiglioli; Gianluca Di Bella; Filomena My; Marco Luigetti; Marina Grandis; Camillo Autore; Stefano Perlini; Federico Perfetto; Claudio Rapezzi
Journal:  JACC Cardiovasc Imaging       Date:  2019-12-18

10.  Proximal weakness involvement in the first Italian case of Charcot-Marie-Tooth 2CC harboring a novel frameshift variant in NEFH.

Authors:  Francesco Aruta; Daniele Severi; Aniello Iovino; Emanuele Spina; Melissa Barghigiani; Lucia Ruggiero; Rosa Iodice; Filippo Maria Santorelli; Fiore Manganelli; Stefano Tozza
Journal:  J Peripher Nerv Syst       Date:  2021-05-19       Impact factor: 3.494

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  1 in total

1.  Cutaneous silent period in ATTRv carriers: a possible early marker of nerve damage?

Authors:  Marco Luigetti; Andrea Di Paolantonio; Valeria Guglielmino; Angela Romano
Journal:  Neurol Sci       Date:  2022-08-09       Impact factor: 3.830

  1 in total

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