Late Adult-Onset Alexander Disease in Siblings with Prominent Autonomic and Cerebellar Dysfunction (P2-2.010)
To highlight late-onset presentation of AOAD (55–60 years) with presentations of profound autonomic and cerebellar dysfunction, including novel finding of hemi-diaphragmatic palsy in siblings of Irish heritage with confirmed genetic mutation GFAP c.1154C>G (p. Ser385Cys) expanding the phenotypic spectrum in disease.
Authors
- Simon Cronin (ORCID: https://orcid.org/0000-0003-0059-8463)
- Aditi Varma-Doyle (ORCID: https://orcid.org/0000-0002-9699-5668)
- Aidan A. Long (ORCID: https://orcid.org/0000-0002-0548-3051)
- Otto Rapalino (ORCID: https://orcid.org/0000-0002-5038-4183)
- Nagagopal Venna (ORCID: https://orcid.org/0000-0002-2457-4223)
Institutions
- Brigham and Women's Hospital (US)
- Cork University Hospital (IE)
- Massachusetts General Hospital (US)
- Mass General Brigham (US)
Publication Details
- Journal
- Neurology
- Published
- 2025-04-07
- DOI
- https://doi.org/10.1212/wnl.0000000000211254
- Primary Topic
- RNA regulation and disease
- Type
- article
- Field-Weighted Citation Impact
- 0.00