Novel In‐Frame <scp><i>FGF14</i></scp> Deletion Causes Spinocerebellar Ataxia Type <scp>27A</scp>: Clinical Response to Deep Brain Stimulation and 4‐Aminopyridine
We identified a novel likely pathogenic FGF14 variant segregating in a family with SCA27A. Additionally, we suggest STN-DBS and 4-AP as promising treatment options for this condition. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Authors
- Lisa Kinsley
- Dimitri Krainc (ORCID: https://orcid.org/0000-0002-4716-1886)
- Niccolò E. Mencacci (ORCID: https://orcid.org/0000-0003-3383-9665)
- Bernabé I. Bustos (ORCID: https://orcid.org/0000-0003-2679-9503)
- Morgan Kinsinger
- Ignacio Juan Keller Sarmiento (ORCID: https://orcid.org/0000-0003-0979-6001)
- Roberta Bovenzi (ORCID: https://orcid.org/0009-0004-4824-0051)
Institutions
- Northwestern University (US)
- University of Rome Tor Vergata (IT)
Publication Details
- Journal
- Movement Disorders
- Published
- 2025-03-29
- DOI
- https://doi.org/10.1002/mds.30183
- Citations
- 2
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.82
Funders
- Northwestern University
- Feinberg School of Medicine