Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations: Annals of Clinical and Translational Neurology

L. Ruggiero, A. Iovino, R. Dubbioso, S. Cocozza, R. Trovato, F. Aruta, G. Pontillo, M. Barghigiani, A. Brunetti, F.M. Santorelli, F. Manganelli, R. Iodice

Research output: Contribution to journalArticlepeer-review

Abstract

We describe an Italian family with adult-onset pure hereditary spastic paraplegia due to biallelic variants in POLR3A gene [c.1909 + 22G > A and c.3839dupT (p.M1280fs*20]. MRI showed a mild hyperintensity of superior cerebellar peduncles and cervical spinal cord atrophy. The neurophysiological metrics about intracortical excitability showed higher values of motor thresholds and a significant reduction of short interval intracortical inhibition (SICI) in the patient with a more severe phenotype. Our multimodal evaluation further expands the wide phenotypic spectrum associated with mutations in the POLR3A gene. An extensive genotype–phenotype correlation study is necessary to explain the role of the many new mutations on the function of protein. © 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association
Original languageEnglish
Pages (from-to)2326-2331
Number of pages6
JournalAnn. Clin. Transl. Neurol.
Volume7
Issue number11
DOIs
Publication statusPublished - 2020

Keywords

  • adult
  • aged
  • Article
  • auditory evoked potential
  • case report
  • central motor conduction time
  • cerebellar peduncle
  • cervical spinal cord
  • clinical article
  • evoked brain stem auditory response
  • excitability
  • female
  • gait
  • gene
  • gene mutation
  • genotype
  • genotype phenotype correlation
  • hereditary motor sensory neuropathy
  • high throughput sequencing
  • human
  • long interval intracortical inhibition
  • male
  • middle aged
  • motor evoked potential
  • nerve conduction
  • nervous system electrophysiology
  • neurophysiological monitoring
  • nuclear magnetic resonance imaging
  • phenotype
  • POLR3A gene
  • priority journal
  • protein function
  • short interval intracortical inhibition
  • spastic paraplegia
  • spastic paraplegia rating scale
  • spinal cord atrophy
  • superior cerebellar peduncle
  • visual evoked potential

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