RFC1-Related Disorders

RFC1-related disorders should be suspected in individuals with onset after age 25 years of one or more of the following clinical findings with supportive electrodiagnostic, vestibular, and imaging findings as well as family history.

Common neurologic findings

  • Sensory neuropathy or neuronopathy

  • Bilateral vestibulopathy

  • Cerebellar dysfunction

  • Chronic cough (can be the main presenting symptom)

  • Autonomic dysfunction (mild and rarely disabling)

Less common neurologic findings

  • Cognitive impairment typically involving executive function and attention / working memory

  • Upper and lower motor neuron involvement: brisk reflexes, particularly in the upper limbs and at the knees. Muscle atrophy, fasciculations, and weakness are rare.

  • Extrapyramidal involvement: resting tremor, bradykinesia, rigidity, and postural instability.

Authors

Andrea Cortese, MD, PhD, Riccardo Curro, MD, PhD, Diego Kaski, MBBS, PhD, FRCP, Surinder Birring, MB ChB (Hons), MD, Mary M Reilly, MB BCh, BAO, MD, and Henry Houlden, MD, PhD.

Published:  November 25, 2020