Mutations in the Arx Gene: Clinical, Electroencephalographic and Neuroimaging Features in 3 Patients

Иванова, Ю. В.; Мухин, К. Ю.; Пылаева, О. А.; Бобылова, М. Ю.; Кваскова, Н. Е.; Петрухин, А. С.

doi:10.17650/2073-8803-2017-12-3-58-67

Rus. ž. det. nevrol.

2017

DOI: 10.17650/2073-8803-2017-12-3-58-67

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Mutations in the Arx Gene: Clinical, Electroencephalographic and Neuroimaging Features in 3 Patients

Ю. В. Иванова¹,

К. Ю. Мухин²,

О. А. Пылаева³

et al.

Abstract: Aristaless-related homeobox) относится к семейству гомеобоксных генов парного типа и играет важную роль в эмбриональном развитии, особенно в развитии головного мозга. Мутации в гене ARX демонстрируют значительную внутри-и межсемейную плейотропию в сочетании с генетической гетерогенностью и вызывают широкий спектр заболеваний. Они проявляются 4 основными клиническими признаками: различными аномалиями развития головного мозга и половых органов, эпилепсией и умственной отсталостью. Авторы представляют 3 собственн… Show more

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Cited by 2 publications

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Clinical Case of Rare Genetic Disorder (Proud Syndrome) in a Child

Vertianova,

Monakhova,

Suraeva

et al. 2024

Pediatr. farmakol.

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Background. Proud syndrome is rare inherited disease with X-linked inheritance associated with mutations in the homeobox gene ARX. Typical clinical signs of this syndrome are severe mental retardation, intractable epilepsy, agenesis (dysgenesis) of corpus callosum. Less common features are genital abnormalities, microcephaly, facial dysmorphia, and skeletal malformations. Clinical case description. The article describes the clinical findings of Proud syndrome in girl A., admitted to Children’s City Clinical Hospital No. 1 in Nizhny Novgorod. The girl was born without asphyxia at term through natural vaginal delivery after the first uneventful pregnancy. Body weight at birth was 2600 g. The genealogical history is burdened by the presence of epilepsy in girl’s father relatives. There were no deviations in psychomotor skills development before disease onset. Hemi-convulsive seizures (switching sides) have appeared at the age of 6 months. These attacks had status course and were resistant to anticonvulsant therapy. Neuroimaging has revealed agenesis of corpus callosum. Regression of psychomotor development, new behavioral disorders (stereotypes and auto-aggression), hyperexcitability, and sleep disorders were observed in dynamics. The diagnosis of Proud syndrome was confirmed by identification of probably pathogenic mutation in the ARX gene (c.1111C>T, p. Arg 371*64). The features of anticonvulsant management were demonstrated in the patient. Conclusion. This clinical case presents typical clinical picture of Proud syndrome. The disease is non-curable. Such patients should be administered with syndromic therapy: constant anticonvulsant therapy, correction of behavioral disorders (classes with specialist on mental defects), neurologist, epileptologist, psychiatrist observations. Parental examination is crucial ARX mutation search in order to determine the prognosis for further child-bearing (parents refused to perform genetic study at the time of article writing).

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Clinical Case of Rare Genetic Disorder (Proud Syndrome) in a Child

Vertianova,

Monakhova,

Suraeva

et al. 2024

Pediatr. farmakol.

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Congenital cerebral palsy with epilepsy: clinical and genetic comparisons

Чебаненко

Sokolov²,

Притыко³

2022

Rus. ž. det. nevrol.

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Background. The problem of congenital cerebral palsy (CP) is relevant due to the limited complexity of habilitation and social adaptation of such patients. The genetic aspects of the pathogenesis of the disease are being actively studied. CP is often accompanied by epilepsy, which is characterized by refractoriness.Aim. To analyze the clinical, genetic and neuroimaging aspects of this pathology in CP patients.Materials and methods. The study included 136 patients with CP. Genetic studies were carried out on venous blood material using NGS and Sanger trio methods. The distribution of genes into groups of determinants was carried out.Results. In 136 patients, 91 genes with pathogenic variants were found. There were more of them in the determinant groups CS (regulation of cytoskeleton formation and functioning), ENM (regulation of neuronal membrane excitability), CMTR (control of chromatin modifications, transcription and replication processes), NTS (regulation of neurotransmitter metabolism and synapse functioning). The distribution of genes according to the degree of motor deficiency was specific: in all groups, except for canalopathy genes (ENM): certain genes corresponded to each degree of motor deficiency. This specificity was less pronounced in the ENM group. The largest number of cases of abnormalities in the structure of the brain was in the CMTR (control of chromatin modifications, transcription and replication processes), CS (regulation of the formation and functioning of the cytoskeleton) and ENM (regulation of the excitability of the neuronal membrane) groups. The RMF group (regulation of the functions of the mitochondrial apparatus) was characterized by the highest resistance to epilepsy. In cases from the group with the canalopathy genes (ENM), the epileptic process was not the most refractory.Conclusions. According to the contribution to the pathogenesis of CP with epilepsy, the distribution of determinants for the provision of excitability and conduction of the nervous tissue (ENM and NTS), the regulation of neuroontogenesis processes (NOG and CMTR), and the predetermination of enzymatic defects leading to storage diseases (GSD) are permissible. The determinant ENM is responsible for both the formation of motor deficits and the formation of the epileptic process. At the same time, its influence on motor deficit is nonspecific, and the degree of refractoriness of the epileptic process largely determines the determinant of mitochondrial function regulation.

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Mutations in the Arx Gene: Clinical, Electroencephalographic and Neuroimaging Features in 3 Patients

Cited by 2 publications

References 24 publications

Clinical Case of Rare Genetic Disorder (Proud Syndrome) in a Child

Clinical Case of Rare Genetic Disorder (Proud Syndrome) in a Child

Congenital cerebral palsy with epilepsy: clinical and genetic comparisons

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