Article

AGG Repeat Expansion and Aggregation of BIN1 in Multiple System Atrophy

2025-09-04

Abstract excerpt

Multiple system atrophy (MSA) is a fatal, sporadic α-synucleinopathy characterized by glial cytoplasmic inclusions (GCIs) in oligodendrocytes. No causative gene for MSA has been identified to date. Herein, we report an intronic AGG repeat expansion in BIN1 , a major susceptibility gene for Alzheimer’s disease, in a familial MSA case and 13% of autopsy-confirmed sporadic cases. In one case, the expansion was detect...

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Literature Corpus work: d972c15b-384b-5692-b5e1-54f2d15a1e9a
DOI: 10.1101/2025.09.02.25334695

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