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[Malformations of cortical development: what's new?].
Medicina (B Aires)
September 2024
Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires. Argentina. E-mail:
Article Synopsis
- Malformations of cortical development (MCDs) are structural brain abnormalities that occur during fetal development and can lead to various neurological conditions like epilepsy, developmental delays, and cognitive impairments.
- There are several types of MCDs, such as microcephaly, hemimegalencephaly, and lissencephaly, each with different presentations and causes, which makes diagnosis challenging.
- Advances in molecular biology and genetic testing have improved understanding of the genetic factors behind MCDs, aiding in prognosis, predicting treatment outcomes, and evaluating recurrence risks for affected individuals.
Cobblestone lissencephaly (Type II), clinical, and neuroimaging: A case report and literature review.
Radiol Case Rep
November 2024
Department of Radiology, Saveetha Medical College and Hospital, Saveetha Institute of Medical and Technical Sciences (SIMATS), Saveetha University, Chennai, Tamil Nadu 602105, India.
Article Synopsis
- Cobblestone lissencephaly (C-LIS) (Type II) is a rare neuronal migration disorder that results in a smooth brain surface, abnormal brain growth, and associated issues like eye anomalies and muscular dystrophy.
- A case study of a 6-year-old girl with C-LIS highlighted severe developmental delays, hypotonia, and seizures, with MRI confirming the typical cobblestone brain appearance and additional problems like enlarged ventricles and smaller cerebellum.
- The report emphasizes the importance of understanding the genetic factors involved, the need for precise neuroimaging for diagnosis, and the focus on supportive care given the overall poor prognosis for affected patients.
Novel loss of function mutation in gene compromises tubulin stability and proteostasis causing spastic paraplegia and ataxia.
Front Cell Neurosci
June 2023
Unit of Neuromuscular Disorders, Translational Pediatrics and Clinical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Microtubules are dynamic cytoskeletal structures involved in several cellular functions, such as intracellular trafficking, cell division and motility. More than other cell types, neurons rely on the proper functioning of microtubules to conduct their activities and achieve complex morphologies. Pathogenic variants in genes encoding for α and β-tubulins, the structural subunits of microtubules, give rise to a wide class of neurological disorders collectively known as "tubulinopathies" and mainly involving a wide and overlapping range of brain malformations resulting from defective neuronal proliferation, migration, differentiation and axon guidance.
View Article and Find Full Text PDF[Genetic analysis of a Chinese family affected with α-dystroglycanopathy due to variant of B3GALNT2 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
July 2023
Center of Prenatal Diagnosis, the Affiliated Hospital of Putian College, Putian, Fujian 351100, China.
Article Synopsis
- The study aimed to investigate the genetic causes of recurrent fetal hydrocephalus in a Chinese family.
- A couple underwent genetic testing after an elective abortion, where fetal and parental samples were analyzed through whole exome sequencing.
- The researchers identified specific pathogenic variants in the B3GALNT2 gene in the fetus, suggesting a connection to α-dystroglycanopathy and providing crucial information for genetic counseling.
Missed diagnosis of lissencephaly after prenatal diagnosis: A case report.
Medicine (Baltimore)
February 2023
Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical University, Xuzhou, Jiangsu, China.
Rationale: Lissencephaly (LIS) is a rare and serious cortical malformation characterized by a smooth or nearly smooth brain surface. With the progress of molecular genetics, platelet-activating factor acetylhydrolase brain isoform Ib is the most frequent type during the fetal period. Here, we report an infant with LIS who was missed although undergoing prenatal diagnosis.
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