Novel EXOSC3 mutation causes complicated hereditary spastic paraplegia

Ayelet Halevy*, Israela Lerer, Rony Cohen, Liora Kornreich, Avinoam Shuper, Moria Gamliel, Bat El Zimerman, Isam Korabi, Vardiella Meiner, Rachel Straussberg, Alexander Lossos

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


We describe two pairs of siblings from a consanguineous family manifesting autosomal recessive hereditary spastic paraplegia caused by a novel mutation in the EXOSC3 gene, previously reported in pontocerebellar hypoplasia type 1. Clinical findings included delayed motor milestones, early-onset spastic paraplegia, variable cognitive disability, and cerebellar signs. Cerebral imaging demonstrated enlarged cisterna magna and mild hypoplasia and atrophy of the lower vermis with a normal pons. Genetic analysis using homozygosity mapping followed by whole exome sequencing identified homozygous c.571G>T; p.G191C mutation in the EXOSC3 gene. We suggest that EXOSC3 mutations may present not only as pontocerebellar hypoplasia type 1, but also as a complicated form of hereditary spastic paraplegia without pontine hypoplasia or atrophy.

Original languageEnglish
Pages (from-to)2165-2169
Number of pages5
JournalJournal of Neurology
Issue number11
StatePublished - Nov 2014


  • Cerebellar atrophy
  • EXOSC3
  • HSP
  • PCH
  • Pontocerebellar hypoplasia
  • Spastic paraplegia


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