A Novel Homozygous <i>KIF1C</i> Variant in 2 Cases of Spastic Ataxia Type 2
Classification of pathogenicity requires extensive multidisciplinary effort, which can be burdensome for affected individuals and families. Like other proteins of the kinesin family, variants in KIF1C may underlie retinal dysfunction.
Authors
- Heli Helander (ORCID: https://orcid.org/0000-0002-7319-3531)
- Jussi‐Pekka Tolonen (ORCID: https://orcid.org/0000-0002-7350-386X)
- Salla M. Kangas (ORCID: https://orcid.org/0000-0002-3644-5832)
- Veli‐Pekka Ronkainen (ORCID: https://orcid.org/0000-0003-3050-4579)
- Johanna Uusimaa (ORCID: https://orcid.org/0000-0002-6794-209X)
- Reetta Hinttala (ORCID: https://orcid.org/0000-0002-7642-4008)
- Sanna Huhtaniska (ORCID: https://orcid.org/0000-0002-0292-2581)
- Maria Suo‐Palosaari (ORCID: https://orcid.org/0000-0002-5500-7168)
- Elisa Rahikkala (ORCID: https://orcid.org/0000-0003-2760-7059)
- Katariina Granath (ORCID: https://orcid.org/0009-0000-3167-6837)
Institutions
- Oulu University Hospital (FI)
- Turku University Hospital (FI)
- University of Oulu (FI)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2025-10-16
- DOI
- https://doi.org/10.1212/nxg.0000000000200311
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00