<i>SYNE1</i> Deficiency Manifesting Primarily With Motor Neuron Disease
This report highlights a novel phenotype of SYNE1 deficiency characterized by early-onset motor neuron disease and virtually no cerebellar manifestations, broadening the phenotypic spectrum of this complex neurodegenerative disease. These findings support investigating <i>SYNE1</i> variants in juvenile ALS and including <i>SYNE1</i> in motor neuron disease gene panels.
Authors
- Fabián Márquez
- Marie Charmaine C. Sy (ORCID: https://orcid.org/0000-0003-1135-6400)
- Rubén Jara Rubio (ORCID: https://orcid.org/0000-0001-5035-9212)
- Leslie Matalonga (ORCID: https://orcid.org/0000-0003-0807-2570)
- Carla Marco (ORCID: https://orcid.org/0009-0008-6330-1376)
- Moustapha Ndiaye (ORCID: https://orcid.org/0000-0001-6815-9614)
- Mónica Povedano (ORCID: https://orcid.org/0000-0001-5146-6183)
- Sergi Beltrán (ORCID: https://orcid.org/0000-0002-2810-3445)
- Pedro M. Rodríguez Cruz (ORCID: https://orcid.org/0000-0001-5416-8341)
- Ariadna Padró‐Miquel (ORCID: https://orcid.org/0000-0002-6488-447X)
- Ainara Salazar‐Villacorta (ORCID: https://orcid.org/0000-0002-5753-2687)
- Amadou Gallo Diop
- Henriette V.F. Senghor (ORCID: https://orcid.org/0000-0002-0986-7749)
- Hamath Abdoul Sy
Institutions
- Queen Mary University of London (GB)
- Bellvitge University Hospital (ES)
- Institut d'Investigació Biomédica de Bellvitge (ES)
- Centre Hospitalier National Universitaire de Fann (SN)
- Centro Nacional de Análisis Genómico (ES)
- Hospital Universitari de Girona Doctor Josep Trueta (ES)
- University College London (GB)
- Universitat de Barcelona (ES)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2025-11-26
- DOI
- https://doi.org/10.1212/nxg.0000000000200306
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00