The Movement Disorder Spectrum of ATP1A3-Related Disorders: Cross-Sectional Analysis and Video Archive of 88 Patients - PubMed
3 hours ago
- #genotype-phenotype correlation
- #movement disorders
- #ATP1A3
- ATP1A3-related disorders exhibit genetic heterogeneity and phenotypic pleiotropy, complicating classification.
- Chronic movement disorders were present in 75% of the 88 studied individuals, with dystonia being the most common (53%).
- Paroxysmal events occurred in 88% of patients, including dystonic spells (58%), abnormal eye movements (50%), and hemiplegic episodes (47%).
- Common comorbidities included epilepsy (24%), cognitive impairment (47%), and neuropsychiatric disorders.
- Only 25% of patients fit a single canonical phenotype, with 23% fitting no canonical category, highlighting clinical heterogeneity.
- Recurrent ATP1A3 variants showed variable expressivity, supporting a symptom-based clinical approach over rigid phenotypic classifications.