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A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia.

S L RydningA DudesekF RimmeleC FunkeS KrügerS BiskupM D VigelandH S HjorthaugY SejerstedC TallaksenK K SelmerChristoph Kamm
Published in: European journal of neurology (2018)
Biallelic variants in ERLIN2 are known to cause recessive HSP type SPG18. Here, the first two families with an autosomal dominant, pure form of HSP caused by a novel ERLIN2 heterozygous missense variant are described. These findings expand the mutational and inheritance spectrum of SPG18. ERLIN2 variants should also be considered in the diagnostic evaluation of patients with autosomal dominant HSP.
Keyphrases
  • heat shock protein
  • intellectual disability
  • heat shock
  • heat stress
  • copy number
  • early onset
  • mitochondrial dna
  • autism spectrum disorder
  • cerebral palsy
  • botulinum toxin