Andreea Nissenkorn1,2,3, Keren Yosovich1,4, Zvi Leibovitz5, Tamar Gur Hartman2,6, Itay Zelcer7, Mohammad Hugirat7, Dorit Lev1,3,8, Tally Lerman-Sagie1,2,3,5, Lubov Blumkin1,2,3,6. 1. Metabolic Neurogenetic Service, 58883Wolfson Medical Center, Holon, Israel. 2. Pediatric Neurology Unit, 58883Wolfson Medical Center, Holon, Israel. 3. Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel. 4. Molecular Genetics Laboratory, 58883Wolfson Medical Center, Holon, Israel. 5. Fetal Neurology Clinic, 58883Wolfson Medical Center, Holon, Israel. 6. Pediatric Movement Disorders Service, 58883Wolfson Medical Center, Holon, Israel. 7. Pediatric Neurology Unit, 61172HaEmek Medical Center, Afula, Israel. 8. Rina Mor Institute of Medical Genetics, 58883Wolfson Medical Center, Holon, Israel.
Abstract
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.
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.
Authors: Kristen Park; Katelyn J Hoff; Linnea Wethekam; Nicholas Stence; Margarita Saenz; Jeffrey K Moore Journal: Front Cell Dev Biol Date: 2021-11-18