- •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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- Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting.Rev. Neurol. 2015; 171: 505-530https://doi.org/10.1016/j.neurol.2015.02.017
- Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Acta Neuropathol. 2013; 126: 307-328https://doi.org/10.1007/s00401-013-1115-8
- Roles of SAM and DDHD domains in mammalian intracellular phospholipase A1 KIAA0725p.Biochim. Biophys. Acta. 2012; 1823: 930-939https://doi.org/10.1016/j.bbamcr.2012.02.002
- Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.Sci. Rep. 2014; 47132https://doi.org/10.1038/srep07132
- Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.Am. J. Hum. Genet. 2012; 91: 1073-1081https://doi.org/10.1016/j.ajhg.2012.10.017
- Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54).Eur. J. Hum. Genet. 2013; 21: 1214-1218https://doi.org/10.1038/ejhg.2013.29
- Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum.Eur. J. Neurol. 2014; 21: e25-e26https://doi.org/10.1111/ene.12305
- Truncating mutation in intracellular phospholipase A₁ gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54).BMC Res. Notes. 2015; 8271https://doi.org/10.1186/s13104-015-1227-4
- In silico prediction of a disease-associated STIL mutant and its affect on the recruitment of centromere protein J (CENPJ).FEBS Open Bio. 2012; 2: 285-293https://doi.org/10.1016/j.fob.2012.09.003
- Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.Brain. 2014; 137: 1901920https://doi.org/10.1093/brain/awu121
- Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.Am. J. Hum. Genet. 2003; 73: 1147-1156
- Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.Am. J. Hum. Genet. 2011; 88: 788-795