Heterozygous <i>PNPT1</i> Variants Cause a Sensory Ataxic Neuropathy
We report two heterozygous PNPT1 variants in two families with a predominant SAN, including the novel p.Arg715Ter. This strengthens the argument of PNPT1 causing dominant disease and highlights a new cause for dominantly inherited SAN.
Authors
- Alexander Martin Rossor (ORCID: https://orcid.org/0000-0003-4648-2896)
- Christopher J. Record (ORCID: https://orcid.org/0000-0002-9802-2683)
- Mary M. Reilly (ORCID: https://orcid.org/0000-0003-0686-905X)
- Mariola Skorupinska
- S. Haddad (ORCID: https://orcid.org/0009-0008-9935-0081)
- Eleanor Self
- Francesco Muntoni (ORCID: https://orcid.org/0000-0002-9102-5232)
- Matilde Laurà
- Gordon Ingle
- Julian Blake
- Adnan Manzur
Institutions
- Norfolk and Norwich University Hospital (GB)
- Great Ormond Street Hospital (GB)
- National Hospital for Neurology and Neurosurgery (GB)
- University College London (GB)
Publication Details
- Journal
- European Journal of Neurology
- Published
- 2025-02-01
- DOI
- https://doi.org/10.1111/ene.70064
- Citations
- 1
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.91
Funders
- Charcot-Marie-Tooth Association
- Muscular Dystrophy Association
- Alnylam Pharmaceuticals
- Wellcome Trust
- National Institute for Health and Care Research
- University College London
- Medical Research Council