%0 Journal Article
%T De novo REEP2 missense mutation in pure hereditary spastic paraplegia
%A Alice B. Schindler
%A Craig Blackstone
%J Archive of "Annals of Clinical and Translational Neurology".
%D 2017
%R 10.1002/acn3.404
%X Alterations in proteins that regulate endoplasmic reticulum morphology are common causes of hereditary spastic paraplegia (SPG1©\78, plus others). Mutations in the REEP1 gene that encodes an endoplasmic reticulum©\shaping protein are well©\known causes of SPG31, a common autosomal dominant spastic paraplegia. A closely©\related gene, REEP2, is mutated in SPG72, with both autosomal and recessive inheritances. Here, we report a patient with a pure hereditary spastic paraplegia due to a de novo missense mutation (c.119T > G, p.Met40Arg) in REEP2 at a highly©\conserved residue very close to another known pathogenic missense change. This represents only the second autosomal dominant SPG72 missense mutation reported
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5420804/