<i>CAMTA1</i> Nonsense Variant Inherited From Asymptomatic Mother: Extremely Variable Expressivity in Congenital Ataxia
Complete absence of symptoms in a mother carrying CAMTA1 c.1544C>A contrasts with severe congenital ataxia in her son. Early intervention at 16 months led to exceptional recovery (GMFM-88: 56.5% → 96%), demonstrating unprecedented intrafamilial variability and neuroplasticity potential in CAMTA1-related disorders.
Authors
- Jun Hwan Choi (ORCID: https://orcid.org/0000-0003-3296-3349)
- So Young Lee (ORCID: https://orcid.org/0000-0002-0433-4548)
- Hyun Jung Lee (ORCID: https://orcid.org/0000-0003-0202-587X)
Institutions
- Jeju National University Hospital (KR)
- Jeju National University (KR)
Publication Details
- Journal
- Clinical Genetics
- Published
- 2025-09-08
- DOI
- https://doi.org/10.1111/cge.70065
- Primary Topic
- Genetic Neurodegenerative Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00