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An integrated modelling methodology for estimating global incidence and prevalence of hereditary spastic paraplegia subtypes SPG4, SPG7, SPG11, and SPG15.

Geert Vander SticheleAlexandra DurrGrace YoonRebecca SchüleCraig BlackstoneGiovanni EspositoConnor BuffelInês OliveiraChristian FreitagStephane van RooijenStéphanie HoffmannLeen ThielemansBelinda S Cowling
Published in: BMC neurology (2022)
This is the first epidemiological model of HSP prevalence at the genetic subtype-level reported at multiple geographic levels. This study offers additional data to better capture the burden of illness due to mutations in common genes causing HSP, that can inform public health policy and healthcare service planning, especially in regions with higher estimated prevalence of HSP.
Keyphrases
  • risk factors
  • healthcare
  • public health
  • heat shock protein
  • heat shock
  • heat stress
  • mental health
  • genome wide
  • gene expression
  • machine learning
  • big data
  • copy number