Case report: novel mutations in the spg11 gene in a case of autosomal recessive hereditary spastic paraplegia with a thin corpus callosum

HIGHLIGHTS

• who: Ji-Qing Duan from the Santa Lucia Foundation (IRCCS), Italy University of Erlangen Nuremberg, Germany have published the paper: Case report: Novel mutations in the SPG11 gene in a case of autosomal recessive hereditary spastic paraplegia with a thin corpus callosum, in the Journal: (JOURNAL)
• what: The authors identified two novel SPG 11 gene mutations: a frameshift mutation (c.5687_5691del) and a non-sense mutation (c.751C>T).

SUMMARY

The diagnosis of autosomal recessive HSP with a thin corpus callosum was finally confirmed according to the clinical manifestations and genetic . . .

 



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