The Interaction of Genetic Mutations in PARK2 and FA2H Causes a Novel Phenotype in a Case of Childhood-Onset Movement Disorder.
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ABSTRACT:
SUBMITTER: Benger M
PROVIDER: S-EPMC6549119 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
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The Interaction of Genetic Mutations in PARK2 and FA2H Causes a Novel Phenotype in a Case of Childhood-Onset Movement Disorder.
Benger Matthew M Mankad Kshitij K Proukakis Christos C Mazarakis Nicholas D ND Kinali Maria M
Frontiers in neurology 20190529
Mutations in the <i>PARK2</i> gene have been implicated in the pathogenesis of early-onset Parkinson's disease. We present a case of movement disorder in a 4-year-old child from consanguineous parents and with a family history of Dopamine responsive dystonia, who was diagnosed with early-onset Parkinson's disease based on initial identification of a pathogenic <i>PARK2</i> mutation. However, the evolution of the child's clinical picture was unusually rapid, with a preponderance of pyramidal rath ...[more]
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