Electro-clinical presentation of hereditary ...
Type de document :
Article dans une revue scientifique: Article original
PMID :
URL permanente :
Titre :
Electro-clinical presentation of hereditary transthyretin related amyloidosis when presenting as a polyneuropathy of unknown origin in northern France.
Auteur(s) :
Davion, Jean-Baptiste [Auteur]
Lille Neurosciences & Cognition - U 1172 [LilNCog]
Bocquillon, P. [Auteur]
Cassim, F. [Auteur]
Frezel, N. [Auteur]
Lacour, Alexandre [Auteur]
Service de Neurologie [CHU de Saint-Étienne]
Dhaenens, Claire-Marie [Auteur]
Maurage, Claude-Alain [Auteur]
Lille Neurosciences & Cognition (LilNCog) - U 1172
Gibier, J. B. [Auteur]
Hachulla, Eric [Auteur]
Institut de Recherche Translationnelle sur l'Inflammation (INFINITE) - U1286
Nguyen The Tich, Sylvie [Auteur]
Defebvre, Luc [Auteur]
Lille Neurosciences & Cognition (LilNCog) - U 1172
Merle, P. E. [Auteur]
CHU Amiens-Picardie
Tard, Celine [Auteur]
Lille Neurosciences & Cognition - U 1172 [LilNCog]
Bocquillon, P. [Auteur]
Cassim, F. [Auteur]
Frezel, N. [Auteur]
Lacour, Alexandre [Auteur]
Service de Neurologie [CHU de Saint-Étienne]
Dhaenens, Claire-Marie [Auteur]
![refId](/themes/Mirage2//images/idref.png)
Maurage, Claude-Alain [Auteur]
![refId](/themes/Mirage2//images/idref.png)
Lille Neurosciences & Cognition (LilNCog) - U 1172
Gibier, J. B. [Auteur]
Hachulla, Eric [Auteur]
![refId](/themes/Mirage2//images/idref.png)
Institut de Recherche Translationnelle sur l'Inflammation (INFINITE) - U1286
Nguyen The Tich, Sylvie [Auteur]
![refId](/themes/Mirage2//images/idref.png)
Defebvre, Luc [Auteur]
![refId](/themes/Mirage2//images/idref.png)
Lille Neurosciences & Cognition (LilNCog) - U 1172
Merle, P. E. [Auteur]
CHU Amiens-Picardie
Tard, Celine [Auteur]
![refId](/themes/Mirage2//images/idref.png)
Titre de la revue :
Revue Neurologique
Nom court de la revue :
Rev Neurol (Paris)
Date de publication :
2021-07-14
ISSN :
0035-3787
Mot(s)-clé(s) en anglais :
TTR
Transthyretin
Amyloidosis
Neuropathy
Electromyography
Transthyretin
Amyloidosis
Neuropathy
Electromyography
Discipline(s) HAL :
Sciences du Vivant [q-bio]
Résumé en anglais : [en]
Introduction
Hereditary transthyretin related amyloidosis (h-ATTR) classically presents as a small fiber neuropathy with positive family history, but can also be revealed by various other types of peripheral neuropathy. ...
Lire la suite >Introduction Hereditary transthyretin related amyloidosis (h-ATTR) classically presents as a small fiber neuropathy with positive family history, but can also be revealed by various other types of peripheral neuropathy. Objective To describe the initial electro-clinical presentation of patients from in a single region (northern France) of h-ATTR when it presents as a polyneuropathy of unknown origin. Method We reviewed the records of patients referred to two neuromuscular centers from northern France with a peripheral neuropathy of unknown origin who were subsequently diagnosed with h-ATTR. Results Among 26 h-ATTR patients (10 Val30Met, 16 Ser77Tyr), only 14 patients had a suspicious family history (53.8%). The electro-clinical presentation was mostly a large-fiber sensory motor polyneuropathy (92.3%), which could be symmetric or not, length-dependent or not, or associated with nerve entrapment or not. Demyelinating signs were observed in 17 patients (70.8%), among whom nine fulfilled the criteria for a definite diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy (37.5%). Conclusion h-ATTR may have a wide spectrum of clinical profiles, and should be considered in the screening of polyneuropathies of unknown origin.Lire moins >
Lire la suite >Introduction Hereditary transthyretin related amyloidosis (h-ATTR) classically presents as a small fiber neuropathy with positive family history, but can also be revealed by various other types of peripheral neuropathy. Objective To describe the initial electro-clinical presentation of patients from in a single region (northern France) of h-ATTR when it presents as a polyneuropathy of unknown origin. Method We reviewed the records of patients referred to two neuromuscular centers from northern France with a peripheral neuropathy of unknown origin who were subsequently diagnosed with h-ATTR. Results Among 26 h-ATTR patients (10 Val30Met, 16 Ser77Tyr), only 14 patients had a suspicious family history (53.8%). The electro-clinical presentation was mostly a large-fiber sensory motor polyneuropathy (92.3%), which could be symmetric or not, length-dependent or not, or associated with nerve entrapment or not. Demyelinating signs were observed in 17 patients (70.8%), among whom nine fulfilled the criteria for a definite diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy (37.5%). Conclusion h-ATTR may have a wide spectrum of clinical profiles, and should be considered in the screening of polyneuropathies of unknown origin.Lire moins >
Langue :
Anglais
Comité de lecture :
Oui
Audience :
Internationale
Vulgarisation :
Non
Établissement(s) :
Université de Lille
Inserm
CHU Lille
Inserm
CHU Lille
Collections :
Date de dépôt :
2024-01-12T06:25:29Z
2024-02-27T15:49:42Z
2024-02-27T15:49:42Z