RFC1-related ataxia is a mimic of early multiple system atrophy

Introduction

Multiple systems atrophy (MSA) is a rare neurodegenerative disorder combining varying presentations of cerebellar impairment, parkinsonism and autonomic dysfunction that relies on pathological examination for a definitive diagnosis.1 2 The second consensus diagnostic criteria (SCDC) subdivide patients into two groups based on a predominance of either parkinsonism (MSA-P) or cerebellar impairment (MSA-C).2 MSA is frequently misdiagnosed, especially early in the disease course, with only 60% of possible and probable MSA meeting the pathological criteria.2 3

A recessive intronic expansion in replication factor C subunit 1 (RFC1) has been found to be a cause of late-onset ataxia and cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS),4 Due to the overlapping clinical features of MSA and CANVAS, we hypothesised that the recessive RFC1 expansion may be implicated in patients that atypically fit the diagnostic criteria for MSA. Here, we present…

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