Related Experiment Video
Updated: Aug 22, 2025

Author Spotlight: Deciphering the Role of ATM in Ataxia-Telangiectasia and the Associated Cerebellar Degeneration
Published on: December 27, 2024
[Cerebellar Ataxia in RFC1 Spectrum Disorders]
Masahiro Ando1, Hiroshi Takashima
1Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences.
Abstract:
Replication factor C subunit 1 (RFC1) spectrum disorders are characterized by a variety of symptoms, including cerebellar ataxia, sensory neuropathy, and vestibular dysfunction, which may occur singularly or in various combinations. RFC1 spectrum disorders may mimic the clinical manifestations and imaging findings of multiple system atrophy. We describe the prevalence, genetic features, and imaging findings of RFC1 spectrum disorders.
Related Concept Videos
Role of Cerebellum and Prefrontal Cortex in Memory
Rous Sarcoma Virus (RSV) and Cancer
RSV is a retrovirus that contains two copies of a plus-strand RNA genome. Its genome consists of four main open...
Autism Spectrum Disorder
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
REM Sleep Behavior Disorder
RBD is significantly associated with...

