A New Variant in the NALCN Channel Is Responsible for Cerebellar Ataxia and Cognitive Impairment
The patient's milder symptoms and later onset, compared to severe pediatric cases, suggest that the clinical spectrum of CLIFAHDD syndrome may be broader than previously recognized. These findings underscore the potential influence of mutation location on disease presentation and severity.
Authors
- Angela Elvira Covone (ORCID: https://orcid.org/0000-0002-7669-5270)
- Silvia Viaggi (ORCID: https://orcid.org/0000-0002-3732-9462)
- Rute Luísa Cabrita Pinto (ORCID: https://orcid.org/0000-0001-8192-5803)
- Domenico Coviello (ORCID: https://orcid.org/0000-0001-8440-865X)
- Giuseppina Conteduca
- Barbara Testa (ORCID: https://orcid.org/0000-0003-3516-2379)
- Roberto Fancellu (ORCID: https://orcid.org/0000-0001-7357-5049)
- Lane Fitzsimmons
- Tiziana Benzi Markushi
Institutions
- Istituto Giannina Gaslini (IT)
- Stony Brook School (US)
- Ospedale Policlinico San Martino (IT)
- Stony Brook University (US)
Publication Details
- Journal
- Genes
- Published
- 2025-10-11
- DOI
- https://doi.org/10.3390/genes16101181
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Ministero della Salute