Spectrum of dominant Charcot-Marie-Tooth disease due to <i>SLC12A6</i> variants
Heterozygous variants in <i>SLC12A6</i> can cause CMT of all clinical phenotypes, severity and age of onset, depending on the genotype. Such phenotypic diversity has not been described for any other CMT gene, and more work is needed to understand disease mechanisms to guide future therapeutic options.
Authors
- Rodrigo Siqueira Soares Frezatti (ORCID: https://orcid.org/0000-0003-4325-3414)
- Christian Laurini (ORCID: https://orcid.org/0009-0008-6707-3104)
- Stefano Carlo Previtali (ORCID: https://orcid.org/0000-0003-2546-4357)
- James Holt (ORCID: https://orcid.org/0000-0003-1935-6210)
- Christopher J. Record (ORCID: https://orcid.org/0000-0002-9802-2683)
- Marina Kennerson (ORCID: https://orcid.org/0000-0003-3332-5074)
- Wilson Marques (ORCID: https://orcid.org/0000-0001-5821-4042)
- Richard Dineen
- Tiffany Grider (ORCID: https://orcid.org/0000-0002-2236-9218)
- Michael E. Shy (ORCID: https://orcid.org/0000-0001-8460-6971)
- Mariola Skorupinska
- Matt C. Danzi (ORCID: https://orcid.org/0000-0003-1568-5965)
- Conrad C. Weihl (ORCID: https://orcid.org/0000-0002-3816-6124)
- Natalia Dominik (ORCID: https://orcid.org/0000-0001-7476-6605)
- Bianca R. Grosz (ORCID: https://orcid.org/0000-0002-6926-0551)
- Pedro José Tomaselli (ORCID: https://orcid.org/0000-0002-1485-3771)
- Roy Poh
- Yuri Falzone (ORCID: https://orcid.org/0000-0003-3233-1907)
- Kishore Raj Kumar (ORCID: https://orcid.org/0000-0003-3482-6962)
- Stephan Zuchner
- Matilde Laurà
- Julian Blake
- Kristl G. Claeys
- Steve Vucic
- Mary M Reilly
- Manoj P Menezes
- Ryan Jacobson
- Astrid Weber
- Adriana P Rebelo
- Melina Ellis
- Matthew B Harms
Institutions
- Rush University Medical Center (US)
- Concord Hospital (US)
- Garvan Institute of Medical Research (AU)
- University of Miami (US)
- University of Liverpool (GB)
- Vita-Salute San Raffaele University (IT)
- Washington University in St. Louis (US)
- Norfolk and Norwich University Hospital (GB)
- Concord Repatriation General Hospital (AU)
- Children's Hospital at Westmead (AU)
- Walton Centre (GB)
- Liverpool Women's Hospital (GB)
- Dr. John T. Macdonald Foundation (US)
- IRCCS Ospedale San Raffaele (IT)
- Sydney Local Health District (AU)
- University of Iowa Health Care (US)
- National Hospital for Neurology and Neurosurgery (GB)
- Anzac Research Institute (AU)
- Clinics Hospital of Ribeirão Preto (BR)
- University College London (GB)
- Columbia University (US)
- KU Leuven (BE)
Publication Details
- Journal
- Journal of Neurology Neurosurgery & Psychiatry
- Published
- 2026-01-07
- DOI
- https://doi.org/10.1136/jnnp-2025-336643
- Citations
- 1
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 23.21