Deciphering Spastic Ataxia
Spastic ataxia represented a clinically and genetically distinct subgroup within HCA, marked by recessive inheritance, large genetic heterogeneity, and more severe motor impairment. Greater awareness of its heterogeneous presentations and progressive disability over time is crucial for timely diagnosis, genetic counseling, and development of tailored management strategies for these patients.
Authors
- Jorge Oliveira (ORCID: https://orcid.org/0000-0003-3924-6385)
- Jorge Sequeiros (ORCID: https://orcid.org/0000-0002-9846-1037)
- Joana Damásio (ORCID: https://orcid.org/0000-0002-6539-6398)
- José Barros (ORCID: https://orcid.org/0000-0001-6183-5050)
- João Moura (ORCID: https://orcid.org/0000-0002-4212-906X)
- Ana Sardoeira (ORCID: https://orcid.org/0000-0001-8325-5794)
- Mariana Santos (ORCID: https://orcid.org/0000-0002-2343-2215)
- Carolina Lemos (ORCID: https://orcid.org/0000-0001-9803-9584)
- Sara Costa (ORCID: https://orcid.org/0000-0002-7786-5876)
Institutions
- Universidade do Porto (PT)
- Hospital de Santo António (PT)
- i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto (PT)
- Centro Hospitalar do Baixo Vouga (PT)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2025-12-01
- DOI
- https://doi.org/10.1212/nxg.0000000000200331
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00