SPG46 spastic paraplegia due to GBA2 mutation: description of the first case in Spain
Neurologia (Engl Ed)
.
2023 Jun;38(5):372-374.
doi: 10.1016/j.nrleng.2022.06.009.
Epub 2023 Apr 7.
Authors
C Cores Bartolomé
1
,
E Rubio Nazábal
2
,
M J Sobrido
3
,
C Pérez Sousa
2
Affiliations
1
Servicio de Neurología, Complexo Hospitalario Universitario de A Coruña (CHUAC), Coruña, Spain. Electronic address: cores_15@hotmail.com.
2
Servicio de Neurología, Complexo Hospitalario Universitario de A Coruña (CHUAC), Coruña, Spain.
3
Instituto de Investigación Biomédica de A Coruña (INIBIC), Servicio Galego de Saúde, Coruña, Spain.
PMID:
37031796
DOI:
10.1016/j.nrleng.2022.06.009
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Glucosylceramidase* / genetics
Humans
Mutation
Paraplegia* / genetics
Spain
Substances
GBA2 protein, human
Glucosylceramidase