Neurometabolic disorders and congenital malformations of the central nervous system

BoAli, Ahmed Y.; Alfadhel, Majid; Tabarki, Brahim

doi:10.17712/nsj.2018.2.20170481

Cited by 6 publications

(5 citation statements)

References 42 publications

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“…The nervous system may be destroyed at any stage in the process of embryo development. Different times and locations of the damage will lead to varying types of CNSM (BoAli et al, 2018). The development of the brain and spinal cord begins with the neuroectoderm, and the subsequent development process is mainly divided into four stages.…”

Section: The Occurrence Of Cnsmmentioning

confidence: 99%

“…The main changes are myelination from caudal to rostral, from posterior to anterior regions, and from central to peripheral locations. If the development fails, it will lead to diseases such as leukodystrophy, metabolic disorders and other metabolic disorders (BoAli et al, 2018).…”

Section: The Occurrence Of Cnsmmentioning

confidence: 99%

“…Congenital nervous system malformation (CNSM) is the third most common malformation after cardiovascular and renal system malformation. The deformity rate of CNSM is higher in people with high blood relatives: 2.3/1,000 in western countries, and 5.6/1,000 in Asian countries (BoAli et al, 2018). Most children require lifelong treatment and care, which has a severe impact not only on physiology but also on psychology.…”

Section: Introductionmentioning

confidence: 99%

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Advantages of CRISPR-Cas9 combined organoid model in the study of congenital nervous system malformations

Wang

2022

Front. Bioeng. Biotechnol.

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In the past 10 years, gene-editing and organoid culture have completely changed the process of biology. Congenital nervous system malformations are difficult to study due to their polygenic pathogenicity, the complexity of cellular and neural regions of the brain, and the dysregulation of specific neurodevelopmental processes in humans. Therefore, the combined application of CRISPR-Cas9 in organoid models may provide a technical platform for studying organ development and congenital diseases. Here, we first summarize the occurrence of congenital neurological malformations and discuss the different modeling methods of congenital nervous system malformations. After that, it focuses on using organoid to model congenital nervous system malformations. Then we summarized the application of CRISPR-Cas9 in the organoid platform to study the pathogenesis and treatment strategies of congenital nervous system malformations and finally looked forward to the future.

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Section: The Occurrence Of Cnsmmentioning

confidence: 99%

Section: The Occurrence Of Cnsmmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Advantages of CRISPR-Cas9 combined organoid model in the study of congenital nervous system malformations

Wang

2022

Front. Bioeng. Biotechnol.

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“…1 They present with a wide range of neurological symptoms, including developmental delays/regression, seizures, acute encephalopathy, hypotonia, neuropsychiatric features, and movement disorders. [2][3][4] Epilepsy is common in inherited metabolic diseases. It can present across one's lifespan and constitutes an immense challenge because it is usually refractory to the commonly used antiepileptic medications and impairs the quality of life of such patients.…”

mentioning

confidence: 99%

Treatable inherited metabolic epilepsies

Hundallah

Tabarki

2021

NSJ

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Inherited metabolic diseases usually present a complex clinical picture in which seizures are one of various neurological manifestations, which include developmental delays/regression, acute encephalopathy, neuropsychiatric manifestations, and movement disorders. However, a seizure can be the prominent feature in inherited metabolic disease. The specific diagnosis of an underlying inherited metabolic disorder in epileptic patients may help design specific treatments that can improve the seizures and stop neurodegeneration. In several inherited metabolic diseases such as vitamin-responsive epilepsies and other metabolic epilepsies, seizures are refractory to antiseizure medications but respond to specific treatments based on vitamin and cofactor supplementation or diet. This review discusses our current understanding of these inherited metabolic disorders associated with epilepsy, where early diagnosis and treatment initiation will significantly improve the outcome.

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“…False positive and false negative results in our study also highlight imaging pitfalls in diagnoses. A methodical approach is therefore warranted, 17 and imaging pattern recognition by radiologists may help to narrow or suggest diagnoses. 18 It should be noted that our study only predicted neurometabolic disorders based on certain MRI features.…”

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confidence: 99%

Inherited paediatric neurometabolic disorders, can brain magnetic resonance imaging predict?

Orf

Waheed

Ali

et al. 2020

NSJ

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Neurometabolic disorders and congenital malformations of the central nervous system

Cited by 6 publications

References 42 publications

Advantages of CRISPR-Cas9 combined organoid model in the study of congenital nervous system malformations

Advantages of CRISPR-Cas9 combined organoid model in the study of congenital nervous system malformations

Treatable inherited metabolic epilepsies

Inherited paediatric neurometabolic disorders, can brain magnetic resonance imaging predict?

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