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Background
RFC1‐related disorder is a novel heredodegenerative condition with a broad phenotypic spectrum. Its neuropathological bases are not yet fully understood, particularly regarding the pattern, extent, and clinical relevance of spinal cord (SC) damage.
Objectives
The objectives were to determine the SC structural signature in RFC1‐related disorder in vivo and to identify potential clinical...
Background
The cerebellar ataxia, neuropathy, and vestibular areflexia syndrome was initially described in the early 1990s as a late‐onset slowly progressive condition. Its underlying genetic cause was recently mapped to the RFC1 gene, and additional reports have expanded on the phenotypic manifestations related to RFC1, although little is known about the pattern and extent of structural brain abnormalities...
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