First patient with hereditary spastic paraplegia type 8 in Poland.

ABSTRACT: SPG 8 is an autosomal dominant HSP, which phenotype results from KIAA0196 gene mutations. There have been twelve types of KIAA0196 mutations described in HGMD, which are located in conservative region of gene encoding strumpellin. We describe first patient in Poland, simultaneously second in the world with KIAA0196 mutation - p.V620A.

SUBMITTER: Bogucki P 

PROVIDER: S-EPMC5582219 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature