TY - JOUR
T1 - The genetic etiology in cerebral palsy mimics
T2 - The results from a Greek tertiary care center
AU - Zouvelou, Vasiliki
AU - Yubero, Delia
AU - Apostolakopoulou, Loukia
AU - Kokkinou, Eleftheria
AU - Bilanakis, Manolis
AU - Dalivigka, Zoi
AU - Nikas, Ioannis
AU - Kollia, Elissavet
AU - Perez-Dueñas, Belen
AU - Macaya, Alfons
AU - Marcé-Grau, Anna
AU - Voutetakis, Antonis
AU - Anagnostopoulou, Katerina
AU - Kekou, Kiriaki
AU - Sofocleus, Christalena
AU - Veltra, Danae
AU - Kokkinis, Xaralabos
AU - Fryssira, Helen
AU - Torres, Rosa J.
AU - Amstrong, Judith
AU - Santorelli, Filippo M.
AU - Artuch, Rafael
AU - Pons, Roser
PY - 2019/5
Y1 - 2019/5
N2 - Objective: 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. Methods: Retrospective study of 47 patients diagnosed with CP and no acquired etiology. Chart review of clinical, neuroradiological, biochemical and molecular data was performed. Results: 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. Conclusions: 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 autonomic dysfunction, and acquired microcephaly. A more stringent use of the concept of CP focused on acquired lesions during the perinatal and infancy periods, and excluding disorders that could be of genetic origin, could contribute to a purer use of the term. Identification of a specific genetic cause for CP mimics may in certain cases lead to etiologic treatment.
AB - Objective: 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. Methods: Retrospective study of 47 patients diagnosed with CP and no acquired etiology. Chart review of clinical, neuroradiological, biochemical and molecular data was performed. Results: 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. Conclusions: 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 autonomic dysfunction, and acquired microcephaly. A more stringent use of the concept of CP focused on acquired lesions during the perinatal and infancy periods, and excluding disorders that could be of genetic origin, could contribute to a purer use of the term. Identification of a specific genetic cause for CP mimics may in certain cases lead to etiologic treatment.
KW - Ataxia
KW - Cerebral palsy
KW - Chorea
KW - Dystonia
KW - Precision medicine
KW - Spasticity
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UR - http://www.scopus.com/inward/citedby.url?scp=85061702171&partnerID=8YFLogxK
U2 - 10.1016/j.ejpn.2019.02.001
DO - 10.1016/j.ejpn.2019.02.001
M3 - Article
C2 - 30913345
AN - SCOPUS:85061702171
VL - 23
SP - 427
EP - 437
JO - European Journal of Paediatric Neurology
JF - European Journal of Paediatric Neurology
SN - 1090-3798
IS - 3
ER -