LAUSR

Novel SPG20 mutation in an extended family with Troyer syndrome

Sign Up to like & get
recommendations!
1 Published in 2017 at "Metabolic Brain Disease"

DOI: 10.1007/s11011-017-0104-3

Abstract: Troyer Syndrome (TRS) is a rare autosomal recessive complicated spastic paraplegia disorder characterized by various neurological and musculoskeletal manifestations. Pathogenicity stems from mutations in SPG20 which encodes Spartin, a multifunctional protein that is thought to… read more here.

Keywords: family; novel spg20; troyer syndrome; mutation ... See more keywords