Clinical and genetic features of <scp>CMT2T</scp> in <scp>Italian</scp> patients confirm the importance of <scp><i>MME</i></scp> pathogenic variants in idiopathic, late‐onset axonal neuropathies
CM2T has been definitively defined as a late-onset neuropathy, with a typical onset in the fifth to sixth decades of life and a more rapidly progressing worsening for biallelic patients. CMT2T can be included in the neuropathies of the elderly, particularly if MME variants heterozygous patients are included.
Authors
- Stefano Tozza (ORCID: https://orcid.org/0000-0002-9672-4577)
- Alessia Mammi (ORCID: https://orcid.org/0000-0002-7683-9449)
- Angelo E. Schenone (ORCID: https://orcid.org/0000-0002-2604-7830)
- Ilaria Carboni
- Mario Sabatelli (ORCID: https://orcid.org/0000-0001-6635-4985)
- Giuseppe Piscosquito (ORCID: https://orcid.org/0000-0001-6768-8936)
- Marco Luigetti (ORCID: https://orcid.org/0000-0001-7539-505X)
- Alessandro Geroldi (ORCID: https://orcid.org/0000-0002-2208-9195)
- Paola Mandich (ORCID: https://orcid.org/0000-0003-3123-3512)
- Sabrina Matà (ORCID: https://orcid.org/0000-0002-7034-7929)
- Francesca Sanguineri
- Marina Grandis (ORCID: https://orcid.org/0000-0001-6637-4425)
- Andrea Gaudio (ORCID: https://orcid.org/0000-0002-3377-3953)
- Martina Sperti
- Fiore Manganelli (ORCID: https://orcid.org/0000-0002-1442-9604)
- Emilia Bellone (ORCID: https://orcid.org/0000-0002-5842-6691)
- Paola Origone
- Lucio Marinelli (ORCID: https://orcid.org/0000-0003-0620-7654)
- Giulia Bisogni (ORCID: https://orcid.org/0000-0001-7314-3393)
- Chiara Gemelli (ORCID: https://orcid.org/0000-0003-1911-2726)
- Fabio Gotta
- Sara Massucco (ORCID: https://orcid.org/0009-0003-9938-8163)
- Gabriella Esposito (ORCID: https://orcid.org/0000-0002-4255-7312)
- Andrea La Barbera (ORCID: https://orcid.org/0000-0003-0606-8404)
- Guglielmino Valeria
- Clarissa Ponti
Institutions
- Università Cattolica del Sacro Cuore (IT)
- Agostino Gemelli University Polyclinic (IT)
- Centro Clinico Nemo (IT)
- Azienda Ospedaliero-Universitaria Careggi (IT)
- CEINGE Biotecnologie Avanzate Franco Salvatore (Italy) (IT)
- Ospedali Riuniti San Giovanni di Dio e Ruggi d'Aragona (IT)
- Ospedale Policlinico San Martino (IT)
- University of Naples Federico II (IT)
- University of Genoa (IT)
Publication Details
- Journal
- Journal of the Peripheral Nervous System
- Published
- 2024-09-09
- DOI
- https://doi.org/10.1111/jns.12657
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00