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.

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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
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article

A case report of multiple system atrophy-mimics: Importance of comprehensive evaluation in suspected familial cases

Vikram Khurana, Chanhee Jeong, Matthew James Farrer, Han-joon Kim
Medicine
Parkinson's Disease Mechanisms and Treatments
article

A case report of multiple system atrophy-mimics: Importance of comprehensive evaluation in suspected familial cases

Vikram Khurana, Chanhee Jeong, Matthew James Farrer, Han-joon Kim
article en

Abstract

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.

MedicineVol. 105(4)
Brigham and Women's Hospital (US), Harvard University (US), Seoul National University Hospital (KR), University of Florida (US)
No poverty
Openalex Percentile: Top 81%
Parkinson's Disease Mechanisms and Treatments
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