Spectrum of hereditary spastic paraplegias in Russian patients

Abstract

First Russian study of hereditary spastic paraplegias using panel MPS (or WES in few cases) detected 120 families/ with 20 SPG. Of 112 detected mutations 54 were novel. Autosomal dominant SPG were presented by 97 families/8 forms (SPG4 - 52% of the total group), autosomal recessive SPG - by 23 families/12 forms. Most interesting findings were related to SPG30 and SPG47. Few forms were unique. Yet a substantial part of tested cases remained molecularly undiscovered as in оther world studies.