Compound heterozygous pathogenic variants in the gene cause infant-onset Krabbe disease.

Background: Krabbe disease, also called globoid cell leukodystrophy, is an autosomal recessive disease caused by a deficiency of lysosomal galactocerebrosidase. Infantile Krabbe occurring before 12 months of age accounts for most cases. Typical clinical features include irritability, seizures, peripheral neuropathy, and progressive neurodegeneration.

Role of Hypoxia-Inducible Factors 1α (HIF1α) in SH-SY5Y Cell Autophagy Induced by Oxygen-Glucose Deprivation.

BACKGROUND HIF-1α plays an important role in hypoxia-ischemia brain damage. Accumulating evidences demonstrates that HIF-1α can contribute to cell autophagy. Oxygen-glucose deprivation (OGD) is a commonly used ischemic model in vitro.

[Effect of botulinum toxin A injection in the treatment of gastrocnemius spasticity in children aged 9-36 months with cerebral palsy: a prospective study].

Objective: To investigate the long-term clinical efficacy and adverse effects of botulinum toxin-A (BTX-A) injection in the treatment of gastrocnemius spasticity in children aged 9-36 months with cerebral palsy.

Methods: Eighty children aged 9-36 months with cerebral palsy and gastrocnemius spasticity were selected and randomly divided into a BTX-A injection group and a conventional treatment group (n=40 each). The children in the BTX-A injection group received injections of BTX-A guided by color Doppler ultrasound and 4 courses of rehabilitation training after injection.

Ketogenic diet effects on neurobehavioral development of children with intractable epilepsy: A prospective study.

Objective: This study aimed to determine the impact of a ketogenic diet (KD) on neurobehavioral development when used to treat children with intractable epilepsy, confirming the efficacy of the KD, as well as the correlation between early electroencephalography (EEG) changes in the early stage with treatment efficacy.

Methods: We enrolled 42 children who were starting treatment for intractable epilepsy with the classic KD protocol. The total development quotient as well as the development quotients for adaptability, gross motor movements, fine motor movements, language, and individual-social interaction on the Gesell developmental scales were assessed before and after 3, 6, 12, and 18 months of KD treatment.

[Therapeutic effects of different doses of botulinum toxin A injection on tiptoe deformation in children with cerebral palsy].

Objective: To study the therapeutic effects of different doses of botulinum toxin A (BTX-A) injection on tiptoe deformation in children with cerebral palsy.

Methods: A total of 256 children with tiptoe deformation due to spastic cerebral palsy were classified into group A (muscle tension levels I-II, n=147) and group B (muscle tension levels III-IV, n=109). Group A was randomly divided into group A1 (injected with high-dose BTX-A, n=73) and group A2 (injected with low-dose BTX-A, n=74).

[Clinical analysis of 322 cases of non-epileptic cerebral palsy].

Objective: To study the clinical features of non-epileptic seizures associated with cerebral palsy (CP) in children.

Methods: A total of 1 198 children with CP (age: 9 months to 6 years) were enrolled. The children with paroxysmal events were monitored by 24 hrs video-EEG (VEEG) to make sure the seizures were epileptic or non-epileptic.

[Association analysis on the polymorphisms of PCOL2 and Sp1 binding sites of COL1A1 gene and the congenital dislocation of the hip in Chinese population].

Objective: To investigate the polymorphism distribution of the PCOL2 and Sp1 binding sites of the collagen type I alpha 1(COL1A1) gene in Chinese population and explore their relationship with congenital dislocation of the hip (CDH).

Methods: The PCOL2 polymorphism (-1997 G/T) in COL1A1 promoter and the Sp1 polymorphism (1546 G/T) in intron 1 were genotyped in 243 members from 81 CDH nuclear family trios by the technique of polymerase chain reaction-restriction fragment length polymorphism, and then transmission disequilibrium test was used to analyze the data of genotypes.

Results: No statistically significant association was observed between CDH and PCOL2 polymorphism.

Mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site.

Objective: To further investigate the genetic basis of hereditary X-linked spondyloepiphyseal dysplasia tarda (SEDL) and provide useful information for the prevention and treatment of the disease.

Methods: RT-PCR and cDNA sequencing were used to test mRNA expression of SEDL gene in a patient with 13 bp deletion of SEDL gene involving the acceptor splice site of intron 5.

Results: Of two different sizes of mRNA products identified in the patient, the 393 bp product was created due to the activation of cryptic splice site within exon 6; the 433 bp product was completely consistent with the part of genomic sequence on chromosome 8.

[Glial fibrillary acidic protein mutation in a Chinese girl with infantile Alexander disease].

Objective: To investigate the molecular basis of infantile Alexander disease in a Chinese patient, which may yield useful information for further genetic counseling.

Methods: DNA sequencing analysis and restriction endonuclease analysis were used to detect the mutation of glial fibrillary acidic protein (GFAP) gene in a patient with clinically diagnosed Alexander disease, in her parents and in 50 healthy controls.

Results: A 249C>T (R79C) mutation was identified in the exon 1 of the GFAP gene but not in her parents and the controls.

[Identification of a novel mutation of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda].

Objective: To investigate further the genetic basis of hereditary X-linked spondyloepiphyseal dysplasia tarda (SEDL).

Methods: Single strand conformation polymorphism (SSCP) combined with polymerase chain reaction and denaturing polyacrylamide gel electrophoresis were used to detect the mutation for the coding exons of SEDL gene as well as their exon/intron boundaries in 5 unrelated Chinese boys clinically diagnosed as having SEDL. DNA sequencing analysis was further used to identify the mutation.