Novel <i>ATXN10</i> Repeat Motif Patterns in Peruvian Families Modify Disease Onset
Our key novel finding is the prominence of the alternate ATTCC motif alongside the common ATTCT motif. While repeat length alone does not appear to drive disease onset in SCA10, we uncovered that the ratio of the ATTCC motif within distinct repeat patterns might correlate with disease onset. These findings underscore the need to adapt LRS clinical workflows to fully characterize large repeat expansions at the nucleotide level.
Authors
- Mario Cornejo‐Olivas (ORCID: https://orcid.org/0000-0001-6313-5680)
- Birgitt Schüele (ORCID: https://orcid.org/0000-0002-9952-5776)
- Kamilla Sedov (ORCID: https://orcid.org/0009-0006-3241-5165)
- Madison James Yang (ORCID: https://orcid.org/0009-0003-0067-9877)
- Egor Dolzhenko (ORCID: https://orcid.org/0000-0002-3296-0677)
- Maryenela Illanes‐Manrique (ORCID: https://orcid.org/0000-0002-3098-0981)
- Shubhangi Kalla (ORCID: https://orcid.org/0009-0009-6533-5665)
- Ismael Araujo-Aliaga (ORCID: https://orcid.org/0000-0002-8661-9351)
- Sarah B. Kingan (ORCID: https://orcid.org/0000-0002-4900-0189)
- Elison Sarapura‐Castro (ORCID: https://orcid.org/0000-0002-1562-3062)
- Carla Manrique-Enciso (ORCID: https://orcid.org/0000-0003-0242-6876)
- Andrea Rivera- Valdivia (ORCID: https://orcid.org/0000-0002-3911-9776)
Institutions
- Universidad Científica del Sur (PE)
- Instituto Nacional de Neurología y Neurocirugía (MX)
- Instituto Nacional de Ciencias Neurológicas
- Pacific Biosciences (United States) (US)
- Stanford University (US)
Publication Details
- Journal
- Neurology Genetics
- Published
- 2025-11-10
- DOI
- https://doi.org/10.1212/nxg.0000000000200316
- Citations
- 1
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.91