M Théaudin1, P Lozeron2, V Algalarrondo3,4, C Lacroix3,5, C Cauquil3,6, C Labeyrie3,6, M S Slama3,4, C Adam3,5, A Guiochon-Mantel3,7, D Adams3,6. 1. Département des Neurosciences cliniques, Unité Nerf Muscle, CHUV, Lausanne, Switzerland. 2. Service de Physiologie Clinique-Explorations Fonctionnelles, Hôpital Lariboisière, Assistance Publique Hôpitaux de Paris, INSERM UMR965, Université Paris Diderot Sorbonne Paris-Cité, Paris, France. 3. Centre National de Référence pour la Neuropathie Amyloïde Familiale, CHU Bicêtre, Assistance Publique Hôpitaux de Paris, Le Kremlin- Bicêtre, France. 4. Service de Cardiologie, CHU Antoine Béclère, Assistance Publique Hôpitaux de Paris, INSERM UMR-S 1180, Université Paris-Sud, Clamart, France. 5. Service d'Anatomopathologie, CHU Bicêtre, Assistance Publique Hôpitaux de Paris, Le Kremlin-Bicêtre, France. 6. Service de Neurologie, CHU Bicêtre, Assistance Publique Hôpitaux de Paris, INSERM Unité1195, Université Paris-Sud, Le Kremlin-Bicêtre, France. 7. Service de Génétique Moléculaire, Pharmacogénétique et Hormonologie, CHU Bicêtre, Assistance Publique Hôpitaux de Paris, Inserm UMR-S 1185, Université Paris-Sud, Le Kremlin-Bicêtre, France.
Abstract
BACKGROUND AND PURPOSE: The aim is to describe an uncommon phenotype of hereditary ATTR neuropathy with upper limb onset. METHODS: The French TTR Familial Amyloid Polyneuropathy database was used for a retrospective evaluation of 32 consecutive patients with upper limb onset of the neuropathy (study group) and they were compared to 31 Portuguese early-onset patients and 99 late-onset patients without upper limb onset. RESULTS: Initial upper limb symptoms were mostly sensory. Lower limb symptoms began 2.3 ± 3 years after upper limb symptoms. Twenty-four (75%) patients were initially misdiagnosed, with 15 different diagnoses. More patients in the study group had a Neuropathy Impairment Score upper limb/lower limb ratio > 1 compared to the late-onset patient group. The study group had significantly more pronounced axonal loss in the median and ulnar motor nerves and the ulnar sensory and sural nerves. On radial nerve biopsies (n = 11), epineurial vessels were abnormal in six cases, including amyloid deposits in vessel walls (3/11), with vessel occlusion in two cases. CONCLUSION: Upper limb onset of hereditary ATTR neuropathy is not rare in non-endemic areas. It is important to propose early TTR sequencing of patients with idiopathic upper limb neuropathies, as specific management and treatment are required.
BACKGROUND AND PURPOSE: The aim is to describe an uncommon phenotype of hereditary ATTR neuropathy with upper limb onset. METHODS: The French TTRFamilial Amyloid Polyneuropathy database was used for a retrospective evaluation of 32 consecutive patients with upper limb onset of the neuropathy (study group) and they were compared to 31 Portuguese early-onset patients and 99 late-onset patients without upper limb onset. RESULTS: Initial upper limb symptoms were mostly sensory. Lower limb symptoms began 2.3 ± 3 years after upper limb symptoms. Twenty-four (75%) patients were initially misdiagnosed, with 15 different diagnoses. More patients in the study group had a Neuropathy Impairment Score upper limb/lower limb ratio > 1 compared to the late-onset patient group. The study group had significantly more pronounced axonal loss in the median and ulnar motor nerves and the ulnar sensory and sural nerves. On radial nerve biopsies (n = 11), epineurial vessels were abnormal in six cases, including amyloid deposits in vessel walls (3/11), with vessel occlusion in two cases. CONCLUSION:Upper limb onset of hereditary ATTR neuropathy is not rare in non-endemic areas. It is important to propose early TTR sequencing of patients with idiopathic upper limb neuropathies, as specific management and treatment are required.
Authors: Antonia Carroll; P James Dyck; Mamede de Carvalho; Marina Kennerson; Mary M Reilly; Matthew C Kiernan; Steve Vucic Journal: J Neurol Neurosurg Psychiatry Date: 2022-03-07 Impact factor: 13.654
Authors: David Adams; Yukio Ando; João Melo Beirão; Teresa Coelho; Morie A Gertz; Julian D Gillmore; Philip N Hawkins; Isabelle Lousada; Ole B Suhr; Giampaolo Merlini Journal: J Neurol Date: 2020-01-06 Impact factor: 4.849
Authors: Morie Gertz; David Adams; Yukio Ando; João Melo Beirão; Sabahat Bokhari; Teresa Coelho; Raymond L Comenzo; Thibaud Damy; Sharmila Dorbala; Brian M Drachman; Marianna Fontana; Julian D Gillmore; Martha Grogan; Philip N Hawkins; Isabelle Lousada; Arnt V Kristen; Frederick L Ruberg; Ole B Suhr; Mathew S Maurer; Jose Nativi-Nicolau; Candida Cristina Quarta; Claudio Rapezzi; Ronald Witteles; Giampaolo Merlini Journal: BMC Fam Pract Date: 2020-09-23 Impact factor: 2.497