Spastic paraplegia as the only symptom in two adult-onset patients carrying a novel pathogenic variant in PYCR2

Eur J Neurol. 2021 Feb;28(2):e17-e19. doi: 10.1111/ene.14530. Epub 2020 Oct 17.

Authors

J-J Xie¹, W Ni¹, Q Wei¹, Z-Y Wu¹

Affiliation

¹ Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, China.

PMID: 32920934
DOI: 10.1111/ene.14530

Abstract

A novel pathogenic PYCR2 variant and corresponding brain images in two patients characterized by spastic paraplegia.

Keywords: PYCR2; adult-onset; hypomyelinating leucodystrophies 10; spastic paraplegia.

© 2020 European Academy of Neurology.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Brain
Humans
Mutation
Paraplegia / genetics
Pedigree
Pyrroline Carboxylate Reductases
Spastic Paraplegia, Hereditary* / diagnostic imaging
Spastic Paraplegia, Hereditary* / genetics

Substances

PYCR2 protein, human
Pyrroline Carboxylate Reductases