Neurological affection and serum neurofilament light chain in wild type transthyretin amyloidosis.

Humans Amyloid Neuropathies, Familial / blood Male Neurofilament Proteins / blood Female Middle Aged Aged Quality of Life Biomarkers / blood Peripheral Nervous System Diseases / blood Aged, 80 and over Prospective Studies Adult

Journal

Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288

Informations de publication

Date de publication:
02 May 2024
Historique:
received: 05 01 2024
accepted: 17 04 2024
medline: 3 5 2024
pubmed: 3 5 2024
entrez: 2 5 2024
Statut: epublish

Résumé

In contrast to inherited transthyretin amyloidosis (A-ATTRv), neuropathy is not a classic leading symptom of wild type transthyretin amyloidosis (A-ATTRwt). However, neurological symptoms are increasingly relevant in A-ATTRwt as well. To better understand the role of neurological symptoms in A-ATTRwt, A-ATTRwt patients were prospectively characterized at Amyloidosis Center Charité Berlin (ACCB) between 2018 and 2023 using detailed neurological examination, quality of life questionnaires, and analysis of age- and BMI-adapted serum neurofilament light chain (NFL) levels. 16 out of 73 (21.9%) patients presented with a severe neuropathy which we defined by a Neuropathy Impairment Score (NIS) of 20 or more. In this group, quality of life was reduced, peripheral neuropathy was more severe, and spinal stenosis and joint replacements were frequent. Age- and BMI matched serum NFL levels were markedly elevated in patients with a NIS ≥ 20. We therefore conclude that highly abnormal values in neuropathy scores such as the NIS occur in A-ATTRwt, and have an important impact on quality of life. Both peripheral neuropathy and spinal canal stenosis are likely contributors. Serum NFL may serve as a biomarker for neurological affection in patients with A-ATTRwt. It will be important to consider neurological aspects of A-ATTRwt for diagnosis, clinical follow-up, and future treatment development.

Identifiants

DOI: 10.1038/s41598-024-60025-6 PMID: 38698025
pubmed: 38698025
doi: 10.1038/s41598-024-60025-6
pii: 10.1038/s41598-024-60025-6
doi:

Substances chimiques

Neurofilament Proteins 0
neurofilament protein L 0
Biomarkers 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

10111

Informations de copyright

© 2024. The Author(s).

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Auteurs

Helena F Pernice (HF)

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Amyloidosis Center Charité Berlin (ACCB), Charitéplatz 1, 10117, Berlin, Germany.
Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Neurology and Experimental Neurology, Charitéplatz 1, 10117, Berlin, Germany.
Berlin Institute of Health at Charité (BIH)-Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany.
ORCID: 0009-0001-8711-5526

Adrian L Knorz (AL)

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Amyloidosis Center Charité Berlin (ACCB), Charitéplatz 1, 10117, Berlin, Germany.
Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Neurology and Experimental Neurology, Charitéplatz 1, 10117, Berlin, Germany.
ORCID: 0000-0002-7924-0394

Paul J Wetzel (PJ)

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Amyloidosis Center Charité Berlin (ACCB), Charitéplatz 1, 10117, Berlin, Germany.
Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Neurology and Experimental Neurology, Charitéplatz 1, 10117, Berlin, Germany.
ORCID: 0009-0001-9393-5512

Carolin Herrmann (C)

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Biometry and Clinical Epidemiology, Charitéplatz 1, 10117, Berlin, Germany.
ORCID: 0000-0003-2384-7303

Harisa Muratovic (H)

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Amyloidosis Center Charité Berlin (ACCB), Charitéplatz 1, 10117, Berlin, Germany.
Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Neurology and Experimental Neurology, Charitéplatz 1, 10117, Berlin, Germany.

Finn Rieber (F)

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Amyloidosis Center Charité Berlin (ACCB), Charitéplatz 1, 10117, Berlin, Germany.
ORCID: 0009-0004-7833-2272

Eleonora Asaad (E)

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Amyloidosis Center Charité Berlin (ACCB), Charitéplatz 1, 10117, Berlin, Germany.
Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Neurology and Experimental Neurology, Charitéplatz 1, 10117, Berlin, Germany.
ORCID: 0009-0002-2677-3266

Gunnar Fiß (G)

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Amyloidosis Center Charité Berlin (ACCB), Charitéplatz 1, 10117, Berlin, Germany.
Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Neurology and Experimental Neurology, Charitéplatz 1, 10117, Berlin, Germany.

Gina Barzen (G)

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Amyloidosis Center Charité Berlin (ACCB), Charitéplatz 1, 10117, Berlin, Germany.
Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Charitéplatz 1, 10117, Berlin, Germany.
Deutsches Herzzentrum der Charité, Department of Cardiology, Angiology and Intensive Care Medicine, Charitéplatz 1, 10117, Berlin, Germany.
DZHK (German Centre for Cardiovascular Research), Partner Site Berlin, Berlin, Germany.
ORCID: 0000-0002-1329-2159

Elisabeth Blüthner (E)

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Amyloidosis Center Charité Berlin (ACCB), Charitéplatz 1, 10117, Berlin, Germany.
Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Medical Clinic m.S. Hepatology and Gastroenterology CCM/CVK, Berlin, Germany.
ORCID: 0000-0002-7008-8795

Fabian Knebel (F)

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Amyloidosis Center Charité Berlin (ACCB), Charitéplatz 1, 10117, Berlin, Germany.
Deutsches Herzzentrum der Charité, Department of Cardiology, Angiology and Intensive Care Medicine, Charitéplatz 1, 10117, Berlin, Germany.
Klinik für Innere Medizin mit Schwerpunkt Kardiologie, Sana Klinikum Lichtenberg, Berlin, Germany.
ORCID: 0000-0002-2095-6806

Sebastian Spethmann (S)

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Amyloidosis Center Charité Berlin (ACCB), Charitéplatz 1, 10117, Berlin, Germany.
Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Charitéplatz 1, 10117, Berlin, Germany.
Deutsches Herzzentrum der Charité, Department of Cardiology, Angiology and Intensive Care Medicine, Charitéplatz 1, 10117, Berlin, Germany.
DZHK (German Centre for Cardiovascular Research), Partner Site Berlin, Berlin, Germany.
ORCID: 0000-0003-0987-8007

Daniel Messroghli (D)

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Amyloidosis Center Charité Berlin (ACCB), Charitéplatz 1, 10117, Berlin, Germany.
Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Charitéplatz 1, 10117, Berlin, Germany.
DZHK (German Centre for Cardiovascular Research), Partner Site Berlin, Berlin, Germany.
Deutsches Herzzentrum der Charité, Department of Cardiology, Angiology and Intensive Care Medicine, Augustenburger Platz 1, 13353, Berlin, Germany.

Bettina Heidecker (B)

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Amyloidosis Center Charité Berlin (ACCB), Charitéplatz 1, 10117, Berlin, Germany.
Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Charitéplatz 1, 10117, Berlin, Germany.
DZHK (German Centre for Cardiovascular Research), Partner Site Berlin, Berlin, Germany.
Deutsches Herzzentrum der Charité, Department of Cardiology, Angiology and Intensive Care Medicine, Hindenburgdamm 30, 12203, Berlin, Germany.
Berlin Institute of Health at Charité (BIH)-Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany.
ORCID: 0000-0002-3811-7920

Anna Brand (A)

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Amyloidosis Center Charité Berlin (ACCB), Charitéplatz 1, 10117, Berlin, Germany.
Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Charitéplatz 1, 10117, Berlin, Germany.
Deutsches Herzzentrum der Charité, Department of Cardiology, Angiology and Intensive Care Medicine, Charitéplatz 1, 10117, Berlin, Germany.
DZHK (German Centre for Cardiovascular Research), Partner Site Berlin, Berlin, Germany.

Christoph Wetz (C)

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Amyloidosis Center Charité Berlin (ACCB), Charitéplatz 1, 10117, Berlin, Germany.
Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Nuclear Medicine, Hindenburgdamm 30, 12203, Berlin, Germany.
ORCID: 0000-0002-7392-1375

Carsten Tschöpe (C)

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Amyloidosis Center Charité Berlin (ACCB), Charitéplatz 1, 10117, Berlin, Germany.
Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Charitéplatz 1, 10117, Berlin, Germany.
DZHK (German Centre for Cardiovascular Research), Partner Site Berlin, Berlin, Germany.
Deutsches Herzzentrum der Charité, Department of Cardiology, Angiology and Intensive Care Medicine, Augustenburger Platz 1, 13353, Berlin, Germany.
Berlin Institute of Health at Charité (BIH)-Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany.
ORCID: 0000-0001-5243-8985

Katrin Hahn (K)

Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Amyloidosis Center Charité Berlin (ACCB), Charitéplatz 1, 10117, Berlin, Germany. katrin.hahn@charite.de.
Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Department of Neurology and Experimental Neurology, Charitéplatz 1, 10117, Berlin, Germany. katrin.hahn@charite.de.
Berlin Institute of Health at Charité (BIH)-Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany. katrin.hahn@charite.de.
ORCID: 0000-0002-6013-0072

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Neurological affection and serum neurofilament...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Troubles de l'homéostasie des protéines › Amyloïdose › Amyloïdose familiale › Neuropathies amyloïdes familiales › Neurological affection and serum neurofilament...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de tissu nerveux › Protéines neurofilamenteuses › Neurological affection and serum neurofilament...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › Neurological affection and serum neurofilament...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Sujet âgé › Neurological affection and serum neurofilament...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Mesures épidémiologiques › Démographie › État de santé › Qualité de vie › Neurological affection and serum neurofilament...
questionsmedicales.fr › Facteurs biologiques › Marqueurs biologiques › Neurological affection and serum neurofilament...
questionsmedicales.fr › Maladies du système nerveux › Maladies neuromusculaires › Neuropathies périphériques › Neurological affection and serum neurofilament...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Sujet âgé › Sujet âgé de 80 ans ou plus › Neurological affection and serum neurofilament...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Caractéristiques des études épidémiologiques › Études épidémiologiques › Études de cohortes › Études prospectives › Neurological affection and serum neurofilament...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Neurological affection and serum neurofilament...