The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
Vasiliki ZouvelouRoser Pons

Abstract

Non-progressive genetic disorders may present with motor dysfunction resembling cerebral palsy (CP). Such patients are often characterized as CP mimics. The purpose of this work was to delineate the clinical manifestations and molecular findings of CP mimic patients, with the ultimate goal to offer specific disease-modifying therapy and genetic counseling. Retrospective study of 47 patients diagnosed with CP and no acquired etiology. Chart review of clinical, neuroradiological, biochemical and molecular data was performed. 31,91% of patients manifested with features resembling dyskinetic CP, 19,14% spastic CP, 10,63% ataxic CP and 38,30% mixed CP. In 23 patients molecular diagnosis was reached and included 5 hereditary spastic paraplegia genes (SPG) in spastic CP mimics; HPRT1, TH, QDPR, DDC in dystonic CP mimics; ADCY5 and NIKX2-1 in choreic CP mimics; CANA1A in ataxic CP mimics; and SPG, PDHA1, NIKX2-1, AT, SLC2A1 and SPR in mixed CP mimics. In 14 patients, the etiological diagnosis led to specific treatment. CP mimics show a number of features that differ from classic CP and can be used as diagnostic clues, including presence of mixed motor features, minor dysmorphic features, oculogyric movements, multiple features of auton...Continue Reading

Citations

Jun 17, 2020·Developmental Medicine and Child Neurology·Ryan PhamJesia G Berry
Jul 2, 2020·Neuropsychiatric Disease and Treatment·Małgorzata SadowskaIlona Kopyta
Feb 3, 2021·JAMA : the Journal of the American Medical Association·Andrés Moreno-De-LucaChrista L Martin
Feb 9, 2021·Frontiers in Neurology·Sara A LewisMichael C Kruer
Nov 14, 2020·Journal of Neural Transmission·Rebecca HerzogAlexander Münchau

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Related Papers

Journal of Neurology, Neurosurgery, and Psychiatry
E R BICKERSTAFF
International Review of Neurobiology
Christopher J McDermott, Pamela J Shaw
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
E V Ekusheva, A B Danilov
© 2022 Meta ULC. All rights reserved