A novel NKX2-1 frameshift variant expanding the genetic landscape of benign hereditary chorea
This case expands the mutational spectrum of NKX2-1-related disorders. The stationary course of chorea, together with thyroid involvement and absence of pulmonary disease, aligns with previous literature. Recognition of novel NKX2-1 variants is essential to improve genotype-phenotype correlations, avoid misdiagnosis with progressive pediatric choreic or ataxic syndromes, and provide accurate prognostic counselling, as most affected individuals achieve a favorable long-term functional outcome.
Authors
- Bianca Laura Cinicola (ORCID: https://orcid.org/0000-0003-1268-5038)
- M. Bologna
- Daniele Birreci (ORCID: https://orcid.org/0009-0004-8000-1886)
- Simone Aloisio
- Martina De Riggi (ORCID: https://orcid.org/0009-0002-2518-4259)
- Luca Angelini (ORCID: https://orcid.org/0000-0002-6601-7476)
- Sofia Grandolfo
- Adriana Martini
- Alberto Spalice
Institutions
- Istituto Neurologico Mediterraneo (IT)
- Sapienza University of Rome (IT)
Publication Details
- Journal
- Neurological Sciences
- Published
- 2025-12-22
- DOI
- https://doi.org/10.1007/s10072-025-08697-4
- Primary Topic
- Thyroid Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Ministero della Salute