Hemiplegic cerebral palsy (CP) is a subtype of CP in which one side of the body is involved. Genetics have increasingly been found to a play a role in the cause of this syndrome. The objective of the study was to assess the role of novel genetic mutations in individuals with hemiplegic CP to refine the understanding of the genetic risk factors. 97 children between 2-18 years (59 male, 38 female) were recruited from nine clinical centers across Ontario. The results suggested that hemiplegic CP can be associated with novel and rare inherited genetic mutations. The presence of these mutations and those involving well-defined genomic disorders among the sample suggest the benefits of testing for diagnostic purposes in hemiplegic CP.
Zarrei M, Fehlings DL, Mawjee K, Switzer L, Thiruvahindrapuram B, Walker S, Merico D, Casallo G, Uddin M, MacDonald JR, Gazzellone MJ, Higginbotham EJ, Campbell C, deVeber G, Frid P, Gorter JW, Hunt C, Kawamura A, Kim M, McCormick A, Mesterman R, Samdup D, Marshall CR, Stavropoulos DJ, Wintle RF, Scherer SW. De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy. Genet Med. 2017 Feb;20(2):172-180 doi.org/10.1038/gim.2017.83
Please visit http://cpnet.canchild.ca/hemi-net for more research highlights regarding this study.