Rapid-Onset Dystonia and Parkinsonism in a Patient With Gaucher Disease

Biallelic mutations in GBA1 cause the lysosomal storage disorder Gaucher disease, and carriers of GBA1 variants have an increased risk of Parkinson’s disease (PD). It is still unknown whether GBA1 variants are also associated with other movement disorders. We present the case of a woman with type 1...

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Detalles Bibliográficos
Autores principales: Hertz, Ellen, Lopez, Grisel, Lichtenberg, Jens, Haubenberger, Dietrich, Tayebi, Nahid, Hallett, Mark, Sidransky, Ellen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Movement Disorder Society 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10548083/
https://www.ncbi.nlm.nih.gov/pubmed/37309111
http://dx.doi.org/10.14802/jmd.23074

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10548083/
https://www.ncbi.nlm.nih.gov/pubmed/37309111
http://dx.doi.org/10.14802/jmd.23074

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