TY - JOUR
T1 - Congenital Mirror Movements Associated With Brain Malformations
AU - Nissenkorn, Andreea
AU - Yosovich, Keren
AU - Leibovitz, Zvi
AU - Hartman, Tamar Gur
AU - Zelcer, Itay
AU - Hugirat, Mohammad
AU - Lev, Dorit
AU - Lerman-Sagie, Tally
AU - Blumkin, Lubov
N1 - Publisher Copyright:
© The Author(s) 2021.
PY - 2021/6
Y1 - 2021/6
N2 - Background: Congenital mirror movements are involuntary movements of a side of the body imitating intentional movements on the opposite side, appearing in early childhood and persisting beyond 7 years of age. Congenital mirror movements are usually idiopathic but have been reported in association with various brain malformations. Methods: We describe clinical, genetic, and radiologic features in 9 individuals from 5 families manifesting congenital mirror movements. Results: The brain malformations associated with congenital mirror movements were: dysplastic corpus callosum in father and daughter with a heterozygous p.Met1* mutation in DCC; hypoplastic corpus callosum, dysgyria, and malformed vermis in a mother and son with a heterozygous p.Thr312Met mutation in TUBB3; dysplastic corpus callosum, dysgyria, abnormal vermis, and asymmetric ventricles in a father and 2 daughters with a heterozygous p.Arg121Trp mutation in TUBB; hypoplastic corpus callosum, dysgyria, malformed basal ganglia and abnormal vermis in a patient with a heterozygous p.Glu155Asp mutation in TUBA1A; hydrocephalus, hypoplastic corpus callosum, polymicrogyria, and cerebellar cysts in a patient with a homozygous p.Pro312Leu mutation in POMGNT1. Conclusion: DCC, TUBB3, TUBB, TUBA1A, POMGNT1 cause abnormal axonal guidance via different mechanisms and result in congenital mirror movements associated with brain malformations.
AB - Background: Congenital mirror movements are involuntary movements of a side of the body imitating intentional movements on the opposite side, appearing in early childhood and persisting beyond 7 years of age. Congenital mirror movements are usually idiopathic but have been reported in association with various brain malformations. Methods: We describe clinical, genetic, and radiologic features in 9 individuals from 5 families manifesting congenital mirror movements. Results: The brain malformations associated with congenital mirror movements were: dysplastic corpus callosum in father and daughter with a heterozygous p.Met1* mutation in DCC; hypoplastic corpus callosum, dysgyria, and malformed vermis in a mother and son with a heterozygous p.Thr312Met mutation in TUBB3; dysplastic corpus callosum, dysgyria, abnormal vermis, and asymmetric ventricles in a father and 2 daughters with a heterozygous p.Arg121Trp mutation in TUBB; hypoplastic corpus callosum, dysgyria, malformed basal ganglia and abnormal vermis in a patient with a heterozygous p.Glu155Asp mutation in TUBA1A; hydrocephalus, hypoplastic corpus callosum, polymicrogyria, and cerebellar cysts in a patient with a homozygous p.Pro312Leu mutation in POMGNT1. Conclusion: DCC, TUBB3, TUBB, TUBA1A, POMGNT1 cause abnormal axonal guidance via different mechanisms and result in congenital mirror movements associated with brain malformations.
KW - DCC
KW - POMGNT1
KW - TUBA1A
KW - TUBB
KW - TUBB3
KW - congenital mirror movements
KW - corpus callosum
UR - http://www.scopus.com/inward/record.url?scp=85098988022&partnerID=8YFLogxK
U2 - 10.1177/0883073820984068
DO - 10.1177/0883073820984068
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C2 - 33413009
AN - SCOPUS:85098988022
SN - 0883-0738
VL - 36
SP - 545
EP - 555
JO - Journal of Child Neurology
JF - Journal of Child Neurology
IS - 7
ER -