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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Published version
Author(s)
Benger, Matthew
Mankad, Kshitij
Proukakis, Christos
Mazarakis, Nicholas D
Kinali, Maria
Type
Journal Article
Abstract
Mutations in the PARK2 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 PARK2 mutation. However, the evolution of the child's clinical picture was unusually rapid, with a preponderance of pyramidal rather than extrapyramidal symptoms, leading to re-investigation of the case with further imaging and genetic sequencing. Interestingly, a second homozygous mutation in the FA2H gene, implicated in Hereditary spastic paraplegia, was revealed, appearing to have contributed to the novel phenotype observed, and highlighting a potential interaction between the two mutated genes.
Date Issued
2019-05-29
Date Acceptance
2019-05-09
Citation
Frontiers in Neurology, 2019, 10
ISSN
1664-2295
Publisher
Frontiers Media
Journal / Book Title
Frontiers in Neurology
Volume
10
Copyright Statement
© 2019 Benger, Mankad, Proukakis, Mazarakis and Kinali. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) (https://creativecommons.org/licenses/by/4.0/). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
Subjects
Science & Technology
Life Sciences & Biomedicine
Clinical Neurology
Neurosciences
Neurosciences & Neurology
PARK2 mutation
movement disorder
hereditary spastic paraplegia (HSP)
novel phenotype
FA2H gene
CERAMIDE
DISEASE
FA2H gene
PARK2 mutation
hereditary spastic paraplegia (HSP)
movement disorder
novel phenotype
1109 Neurosciences
1103 Clinical Sciences
1701 Psychology
Publication Status
Published
Article Number
555
Date Publish Online
2019-05-29