A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia
- PMID: 32428220
- PMCID: PMC7296852
- DOI: 10.1093/brain/awaa120
A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia
Figures

Comment in
-
Reply: A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxia; and Novel GDAP2 pathogenic variants cause autosomal recessive spinocerebellar ataxia-27 (SCAR27) in a Chinese family.Brain. 2020 Jun 1;143(6):e51. doi: 10.1093/brain/awaa122. Brain. 2020. PMID: 32428197 Free PMC article. No abstract available.
Comment on
-
GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia.Brain. 2018 Sep 1;141(9):2592-2604. doi: 10.1093/brain/awy198. Brain. 2018. PMID: 30084953 Free PMC article.
References
-
- Gonzalez Esquivel D, Ramirez-Ortega D, Pineda B, Castro N, Rios C, Perez de la Cruz V.. Kynurenine pathway metabolites and enzymes involved in redox reactions. Neuropharmacology 2017; 112: 331–45. - PubMed