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The “broken wishbone” splenial sign: A diagnostic hallmark for SPG54 spastic ataxia

      Highlights

      • SPG54 is a rare complicated type of hereditary spastic paraplegia caused by mutations in the DDHD2 gene.
      • Affected individuals exhibit delayed psychomotor development, cognitive impairment and early-onset progressive spasticity.
      • We report a novel DDHD2 mutation that extends the genotype and phenotype spectrum of DDHD2/SPG54.
      • MRI typically shows thinning of splenium of corpus callosum that gives a striking resemblance to a "broken wishbone"

      Keywords

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