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Case report: Early-onset Parkinson's disease with initial spastic paraparesis and hyperreflexia caused by compound heterozygous PRKN-gene exon 2 and 4 deletions

Pathogenic variants in the Parkin-gene (PRKN) are among the most common genetic causes of early onset Parkinson's disease (EOPD). Patients with EOPD can present with atypical clinical features and misdiagnosis is frequent. Here, we report a clinical phenotype with atypical signs and symptoms of...

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Detalles Bibliográficos
Autores principales: Jensen, Ida, Hendrich, Corinna, Klietz, Martin, Berding, Georg, Höglinger, Günter U., Wegner, Florian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9714025/
https://www.ncbi.nlm.nih.gov/pubmed/36468052
http://dx.doi.org/10.3389/fneur.2022.969232