Electro-clinical presentation of hereditary transthyretin related amyloidosis when presenting as a polyneuropathy of unknown origin in northern France - 10/07/21

Doi : 10.1016/j.neurol.2021.02.392

J.-B. Davion ^a,^g,⁎ , P. Bocquillon ^b, F. Cassim ^b, N. Frezel ^b, A. Lacour ^c, C.-M. Dhaenens ^d, C.-A. Maurage ^e, J.-B. Gibier ^e, E. Hachulla ^f, S. Nguyen The Tich ^a,^g, L. Defebvre ^h, P.-E. Merle ⁱ, C. Tard ^a,^h
^a Centre de référence des Maladies Neuromusculaires, CHU Lille, 59000 Lille, France
^b Service de Neurophysiologie clinique, CHU Lille, 59000 Lille, France
^c Service de Neurologie, CHU de Saint-Etienne, 42000 Saint-Etienne, France
^d University of Lille, Inserm UMR-S 1172, CHU Lille, Biochemistry and Molecular Biology Department - UF Génopathies, Lille, France
^e Service de Pathologie, CHU Lille, 59000, Lille, France
^f Service de Médecine Interne et Immunologie Clinique, CHU Lille, 59000 Lille, France
^g Service de Neurologie pédiatrique, CHU Lille, 59000 Lille, France
^h Service de Neurologie et pathologie du mouvement, CHU Lille, 59000 Lille, France
ⁱ Service des Explorations Fonctionnelles du Système Nerveux, CHU Amiens-Picardie, 80000 Amiens, France

^⁎Corresponding author at: CHRU Lille, hôpital Roger Salengro, Neurologie, avenue Emile Laine, Lille 59037, France.CHRU Lille, hôpital Roger Salengro, Neurologieavenue Emile LaineLille59037France

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Abstract

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%).