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Extension of the Clinicoradiologic Spectrum of Newly Described End-Truncating LAMB1 Variations

OBJECTIVES: To refine the clinical spectrum of a very recently identified phenotype associated with LAMB1 end-truncating pathogenic variations. METHODS: Detailed clinical, neuropsychological, and MRI investigation of 6 patients from 2 unrelated families segregating end-truncating LAMB1 variations. R...

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Autores principales: Morel, Hélène, Bailly, Laurent, Urbanczyk, Cédric, Hervé, Dominique, Berroir, Stéphane, Le Bouc, Raphaël, Levy, Richard, Meyer, Mylène, Aloui, Chaker, Tournier-Lasserve, Elisabeth, Mathey, Guillaume
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10096279/
https://www.ncbi.nlm.nih.gov/pubmed/37063705
http://dx.doi.org/10.1212/NXG.0000000000200069
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author Morel, Hélène
Bailly, Laurent
Urbanczyk, Cédric
Hervé, Dominique
Berroir, Stéphane
Le Bouc, Raphaël
Levy, Richard
Meyer, Mylène
Aloui, Chaker
Tournier-Lasserve, Elisabeth
Mathey, Guillaume
author_facet Morel, Hélène
Bailly, Laurent
Urbanczyk, Cédric
Hervé, Dominique
Berroir, Stéphane
Le Bouc, Raphaël
Levy, Richard
Meyer, Mylène
Aloui, Chaker
Tournier-Lasserve, Elisabeth
Mathey, Guillaume
author_sort Morel, Hélène
collection PubMed
description OBJECTIVES: To refine the clinical spectrum of a very recently identified phenotype associated with LAMB1 end-truncating pathogenic variations. METHODS: Detailed clinical, neuropsychological, and MRI investigation of 6 patients from 2 unrelated families segregating end-truncating LAMB1 variations. RESULTS: All patients harbored a LAMB1 end-truncating pathogenic variation. The specific association of a hippocampal type episodic memory dysfunction and a diffuse leukoencephalopathy was observed in all 4 patients aged older than 50 years, slightly worsening over time in 2 patients with several years of follow-up. Additional unspecific neurologic symptoms are reported, such as episodes of numbness, language troubles, or faintness in these 4 patients and the 2 younger ones. DISCUSSION: The association of an extensive leukoencephalopathy with an episodic memory dysfunction of the hippocampal type is strongly suggestive of a LAMB1 end-truncating variation in adults older than 50 years. Early cognitive complaints and imaging abnormalities might exist decades before. Additional transient manifestations can be observed, and this association should lead to LAMB1 screening to avoid unnecessary invasive investigations.
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spelling pubmed-100962792023-04-13 Extension of the Clinicoradiologic Spectrum of Newly Described End-Truncating LAMB1 Variations Morel, Hélène Bailly, Laurent Urbanczyk, Cédric Hervé, Dominique Berroir, Stéphane Le Bouc, Raphaël Levy, Richard Meyer, Mylène Aloui, Chaker Tournier-Lasserve, Elisabeth Mathey, Guillaume Neurol Genet Clinical/Scientific Note OBJECTIVES: To refine the clinical spectrum of a very recently identified phenotype associated with LAMB1 end-truncating pathogenic variations. METHODS: Detailed clinical, neuropsychological, and MRI investigation of 6 patients from 2 unrelated families segregating end-truncating LAMB1 variations. RESULTS: All patients harbored a LAMB1 end-truncating pathogenic variation. The specific association of a hippocampal type episodic memory dysfunction and a diffuse leukoencephalopathy was observed in all 4 patients aged older than 50 years, slightly worsening over time in 2 patients with several years of follow-up. Additional unspecific neurologic symptoms are reported, such as episodes of numbness, language troubles, or faintness in these 4 patients and the 2 younger ones. DISCUSSION: The association of an extensive leukoencephalopathy with an episodic memory dysfunction of the hippocampal type is strongly suggestive of a LAMB1 end-truncating variation in adults older than 50 years. Early cognitive complaints and imaging abnormalities might exist decades before. Additional transient manifestations can be observed, and this association should lead to LAMB1 screening to avoid unnecessary invasive investigations. Wolters Kluwer 2023-04-12 /pmc/articles/PMC10096279/ /pubmed/37063705 http://dx.doi.org/10.1212/NXG.0000000000200069 Text en Copyright © 2023 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND) (https://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
spellingShingle Clinical/Scientific Note
Morel, Hélène
Bailly, Laurent
Urbanczyk, Cédric
Hervé, Dominique
Berroir, Stéphane
Le Bouc, Raphaël
Levy, Richard
Meyer, Mylène
Aloui, Chaker
Tournier-Lasserve, Elisabeth
Mathey, Guillaume
Extension of the Clinicoradiologic Spectrum of Newly Described End-Truncating LAMB1 Variations
title Extension of the Clinicoradiologic Spectrum of Newly Described End-Truncating LAMB1 Variations
title_full Extension of the Clinicoradiologic Spectrum of Newly Described End-Truncating LAMB1 Variations
title_fullStr Extension of the Clinicoradiologic Spectrum of Newly Described End-Truncating LAMB1 Variations
title_full_unstemmed Extension of the Clinicoradiologic Spectrum of Newly Described End-Truncating LAMB1 Variations
title_short Extension of the Clinicoradiologic Spectrum of Newly Described End-Truncating LAMB1 Variations
title_sort extension of the clinicoradiologic spectrum of newly described end-truncating lamb1 variations
topic Clinical/Scientific Note
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10096279/
https://www.ncbi.nlm.nih.gov/pubmed/37063705
http://dx.doi.org/10.1212/NXG.0000000000200069
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