A case report of multiple system atrophy-mimics: Importance of comprehensive evaluation in suspected familial cases
This case highlights that late-onset MLD can closely mimic the clinical phenotype of MSA. Clinicians should maintain a high index of suspicion when encountering familial MSA. A comprehensive genetic evaluation is essential in such cases to exclude metabolic or hereditary mimics before concluding a rare familial presentation of a typically sporadic synucleinopathy.
Authors
- Vikram Khurana
- Chanhee Jeong (ORCID: https://orcid.org/0009-0002-9415-3595)
- Matthew James Farrer (ORCID: https://orcid.org/0000-0003-1159-5321)
- Han-joon Kim
Institutions
- Brigham and Women's Hospital (US)
- Harvard University (US)
- Seoul National University Hospital (KR)
- University of Florida (US)
Publication Details
- Journal
- Medicine
- Published
- 2026-01-23
- DOI
- https://doi.org/10.1097/md.0000000000047266
- Primary Topic
- Parkinson's Disease Mechanisms and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00