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

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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Bibliographic Details
Main Authors: Ida Jensen, Corinna Hendrich, Martin Klietz, Georg Berding, Günter U. Höglinger, Florian Wegner
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-11-01
Series:Frontiers in Neurology
Subjects:
PRKN-gene
Parkin
PRKN2
young onset parkinsonism
early onset Parkinson's disease (EOPD)
exon 2
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2022.969232/full

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https://www.frontiersin.org/articles/10.3389/fneur.2022.969232/full

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