Benger, M;
Mankad, K;
Proukakis, C;
Mazarakis, ND;
Kinali, M;
(2019)
The Interaction of Genetic Mutations in PARK2 and FA2H Causes a Novel Phenotype in a Case of Childhood-Onset Movement Disorder.
Frontiers in Neurology
, 10
, Article 555. 10.3389/fneur.2019.00555.
Preview |
Text
fneur-10-00555.pdf - Published Version Download (1MB) | Preview |
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.
| Type: | Article |
|---|---|
| Title: | The Interaction of Genetic Mutations in PARK2 and FA2H Causes a Novel Phenotype in a Case of Childhood-Onset Movement Disorder |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.3389/fneur.2019.00555 |
| Publisher version: | https://doi.org/10.3389/fneur.2019.00555 |
| Language: | English |
| Additional information: | Copyright © 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). 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. |
| Keywords: | PARK2 mutation, movement disorder, hereditary spastic paraplegia (HSP), novel phenotype, FA2H gene |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10076201 |
Archive Staff Only
 |
View Item |
