Adult-Onset EIF2B-Pathies: A Clinical, Imaging and Genetic Profiling with Literature Review
Adult-onset EIF2B-pathies have a distinct clinical profile of female predominance with cerebellar ataxia, spasticity and cognitive decline as the commonest triad of clinical manifestations and leukoencephalopathy with rarefaction on brain MRI. Variants in <i>EIF2B5</i> were common in the Asian and European cohorts and <i>EIF2B3</i> in the Indian cohort.
Authors
- Hansashree Padmanabha (ORCID: https://orcid.org/0000-0001-6473-4319)
- Gautham Arunachal (ORCID: https://orcid.org/0000-0001-9985-7028)
- Rohan Ramachandra Mahale (ORCID: https://orcid.org/0000-0001-5617-4569)
- Sangeeth Thuppanattumadam Ananthasubramanian
Institutions
- National Institute of Mental Health and Neurosciences (IN)
Publication Details
- Journal
- Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
- Published
- 2024-10-25
- DOI
- https://doi.org/10.1017/cjn.2024.308
- Primary Topic
- RNA regulation and disease
- Type
- article
- Field-Weighted Citation Impact
- 0.00