Phenotypic Heterogeneity among GBA p.R202X Carriers in Lewy Body Spectrum Disorders

We describe the clinical and neuropathologic features of patients with Lewy body spectrum disorder (LBSD) carrying a nonsense variant, c.604C>T; p.R202X, in the glucocerebrosidase 1 (GBA) gene. While this GBA variant is causative for Gaucher’s disease, the pathogenic role of this mutation in LBSD...

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Detalles Bibliográficos
Autores principales: Napolioni, Valerio, Fredericks, Carolyn A., Kim, Yongha, Channappa, Divya, Khan, Raiyan R., Kim, Lily H., Zafar, Faria, Couthouis, Julien, Davidzon, Guido A., Mormino, Elizabeth C., Gitler, Aaron D., Montine, Thomas J., Schüle, Birgitt, Greicius, Michael D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8774039/
https://www.ncbi.nlm.nih.gov/pubmed/35052839
http://dx.doi.org/10.3390/biomedicines10010160

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