- •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"
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Published online: June 13, 2019
Received in revised form: June 7, 2019
Received: May 3, 2019
© 2019 Elsevier B.V. All rights reserved.