Early-Onset Spastic Ataxia in a Patient With the Prion (PRNP) p.Val180Ile Variant
Open Access
- 31 October 2025
- journal article
- Published by The Korean Movement Disorder Society in Journal of Movement Disorders
- Vol. 18 (4) , 379-381
Abstract
No abstract availableThis publication has 7 references indexed in Scilit:
- Prion Mutations in Republic of Republic of Korea, China, and JapanInternational Journal of Molecular Sciences, 2022
- Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseasesNeuropsychiatric Disease and Treatment, 2018
- Genomic Characteristics of Genetic Creutzfeldt-Jakob Disease Patients with V180I Mutation and Associations with Other Neurodegenerative DisordersPLOS ONE, 2016
- Quantifying prion disease penetrance using large population control cohortsScience Translational Medicine, 2016
- Rare V180I mutation in PRNP gene of a Chinese patient with Creutzfeldt-Jakob diseasePrion, 2014
- Glycoform-Selective Prion Formation in Sporadic and Familial Forms of Prion DiseasePLOS ONE, 2013
- Clinical features of Creutzfeldt-Jakob disease with V180I mutationNeurology, 2004