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Assessment of fetal brain abnormalities
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
A few reports of prenatal diagnosis of lissencephaly have been published (45–47). It was described that without previous history of an affected child, lissencephaly probably cannot be reliably made until 26 to 28 weeks of gestation (48). However, from recent study in the assessment of Sylvian fissure appearance during pregnancy, there might be a potential of earlier diagnosis of migration disorders (49).
Paper 4
Published in Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw, The Final FRCR, 2020
Amanda Rabone, Benedict Thomson, Nicky Dineen, Vincent Helyar, Aidan Shaw
Lissencephaly is an abnormally smooth brain surface. The cortex is thickened and the lateral ventricles may be dilated, especially posteriorly. The cerebellum is usually not affected. Pachygyria (broad gyri) and agyria (no gyri) also exist as subtypes within this spectrum of disorders.
Microdeletion Syndromes
Published in Merlin G. Butler, F. John Meaney, Genetics of Developmental Disabilities, 2019
Gopalrao V. N. Velagaleti, Nancy J. Carpenter
Information can be obtained through computer searches of key words or syndrome names. Parent or family support groups are also available for most syndromes or disorders. The following is a list of organizations or support groups where pertinent information about this syndrome can be found: Lissencephaly Network, Inc. (http://www.lissencephaly.org).Lissencephaly Network.Lissencephaly Launch Pad (hompage.ntlworld.com/foliot/liss).Lissencephaly Contact Group, UK (http://www.lissencephaly.org.uk/).
A mesoscale finite element modeling approach for understanding brain morphology and material heterogeneity effects in chronic traumatic encephalopathy
Published in Computer Methods in Biomechanics and Biomedical Engineering, 2021
A. Bakhtiarydavijani, G. Khalid, M. A. Murphy, K. L. Johnson, L. E. Peterson, M. Jones, M. F. Horstemeyer, A. C. Dobbins, R. K. Prabhu
The sulcus length was found to affect the near-field stress concentrations when the impending pressure waves traversed through the CSF and flanked the gray matter of the sulcus. By increasing the sulcus length from 7.5 to 24.5 mm, the Table 4 and Figure 8(g–i)). This increase could be related to the increased mismatch between the stress wavefronts traveling in the CSF and gray matter (Figure C1 in Appendix C). In the far-field, the length of the shear bands was proportional to the sulcus length but had only minor effects on the magnitude of the von Mises stress in those bands (Figure 8(g–i)). The larger area covered by these stress bands means that more brain tissue may be susceptible to injury with longer sulci. These effects may be compounded by brain malformations, such as lissencephaly and polymicrogyria (Budday et al. 2014). Accordingly, the susceptibility of individuals with such conditions to blunt impact head trauma should differ from those without the susceptibility.
Diagnosis of central nervous system abnormalities: comparison of prenatal neurosonography and foetal magnetic resonance imaging findings
Published in Journal of Obstetrics and Gynaecology, 2022
Sureyya Saridas Demir, Erkan Cagliyan, Fatma Ceren Sarioglu, Handan Guleryuz, Sabahattin Altunyurt
Foetal MRI demonstrated vermian hypoplasia with corpus callosum anomalies, hydrocephalus with lissencephaly and cerebellar hypoplasia, haemorrhage in germinal matrix and Chiari malformation type II in 1, 2, 1, and 1 among 12 cases with a suspicion of hydrocephalus in foetal USG. Foetal MRI reported cerebellar hypoplasia and normal anatomic findings in 1 and 2 of 4 cases with a diagnosis of microcephaly in neurosonography. Foetal MRI reported additional finding as macrocephaly and arachnoid cyst in a case with macrocephaly. No abnormality was found in foetal MRI in two cases with lissencephaly. Foetal MRI changed the diagnosis of a case with trigonocephaly to ventriculomegaly.
Circumventing the packaging limit of AAV-mediated gene replacement therapy for neurological disorders
Published in Expert Opinion on Biological Therapy, 2022
Lara Marrone, Paolo M. Marchi, Mimoun Azzouz
LAMA2-related congenital muscular dystrophy, also termed muscular dystrophy type 1A (MDC1A, MIM 607855), is the most common and fatal form of early-onset inherited muscular dystrophy, characterized by hypotonia, delayed motor development and relentless muscle weakening. Importantly, patients also present neurological abnormalities, including lissencephaly and agyria, intellectual disability, and epilepsy [115]. Currently, there is no treatment for this debilitating disease. Mutations in the LAMA2 gene lead to deficiency of laminin α2, a subunit of laminin 2 (merosin). Unfortunately, the extent of the laminin α2 cDNA (>9 kb) precludes its packaging into a single AAV vector. A suggested solution to this limitation has been the use of a condensed version of agrin, which is a functional substitute sharing some fundamental properties with laminin α2 (i.e. α-dystroglycan binding, basement membrane-sarcolemma linkage) and thus able to structurally compensate for laminin-α2 deficiency. In 2005, the Xiao lab showed that systemic delivery of AAV1/2-mini-agrin vectors into different muscles of an MDC1A-mouse model quadrupled its lifespan, improving whole-body growth and motility [116]. More recently, the same group upgraded to the AAV9 serotype and showed that AAV9-mini-agrin vectors additionally ameliorated peripheral neuropathy and cognition, thus offering superior therapeutic effects compared to the AAV1 serotype [117]. These studies show that the AAV vector-mediated delivery of mini-agrin is among the most promising experimental approaches for LAMA2-related congenital muscular dystrophy. Further optimization of mini-agrin constructs (i.e. by the use of muscle-specific promoters) will be needed to improve their therapeutic potential.