Cockayne syndrome(CS)group B(CSB),which results from mutations in the excision repair cross-complementation group 6(ERCC6)genes,which produce CSB protein,is an autosomal recessive disease characterized by multiple pro...Cockayne syndrome(CS)group B(CSB),which results from mutations in the excision repair cross-complementation group 6(ERCC6)genes,which produce CSB protein,is an autosomal recessive disease characterized by multiple progressive disorders including growth failure,microcephaly,skin photosensitivity,and premature aging.Clinical data show that brain atrophy,demyelination,and calcification are the main neurological manifestations of CS,which progress with time.Neuronal loss and calcification occur in various brain areas,particularly the cerebellum and basal ganglia,resulting in dyskinesia,ataxia,and limb tremors in CSB patients.However,the understanding of neurodevelopmental defects in CS has been constrained by the lack of significant neurodevelopmental and functional abnormalities observed in CSB-deficient mice.In this review,we focus on elucidating the protein structure and distribution of CSB and delve into the impact of CSB mutations on the development and function of the nervous system.In addition,we provide an overview of research models that have been instrumental in exploring CS disorders,with a forward-looking perspective on the substantial contributions that brain organoids are poised to further advance this field.展开更多
BACKGROUND Cockayne syndrome(CS)is a rare inherited disease characterized by progressive motor symptoms including muscle weakness,joint contracture,ataxia,and spasticity.Botulinum neurotoxin type A has been used for c...BACKGROUND Cockayne syndrome(CS)is a rare inherited disease characterized by progressive motor symptoms including muscle weakness,joint contracture,ataxia,and spasticity.Botulinum neurotoxin type A has been used for conditions such as dystonia and spasticity,but it has rarely been used in patients with CS.CASE SUMMARY We report a 6-year-and-9-mo old girl diagnosed with CS who received an injection of botulinum neurotoxin type A to manage her difficulty with walking.A total dose of 210 units of botulinum neurotoxin type A was administered into the bilateral tibialis posterior and gastrocnemius muscles.To evaluate the treatment effects on spasticity,joint contracture,pain,and ataxia,measurement tools including the Modified Ashworth Scale,the passive range of motion,the Faces Pain Scale-Revised,and the Scale for the Assessment and Rating of Ataxia,were employed.The first week after the injection,the Modified Ashworth Scale score for the plantar flexors and foot invertors improved bilaterally,along with advancements in the passive range of motion of the bilateral ankles and a lower score for the Faces Pain Scale-Revised.These treatment effects persisted to the 8th week post-injection,but returned to baseline values at the 12th week post-injection,except for the pain scale.CONCLUSION Botulinum toxin injection can thus be considered as a treatment option for lower extremity spasticity,joint contracture,and pain derived from CS.展开更多
基金supported by the National Natural Science Foundation of China(Nos.32000692 and 32200816).
文摘Cockayne syndrome(CS)group B(CSB),which results from mutations in the excision repair cross-complementation group 6(ERCC6)genes,which produce CSB protein,is an autosomal recessive disease characterized by multiple progressive disorders including growth failure,microcephaly,skin photosensitivity,and premature aging.Clinical data show that brain atrophy,demyelination,and calcification are the main neurological manifestations of CS,which progress with time.Neuronal loss and calcification occur in various brain areas,particularly the cerebellum and basal ganglia,resulting in dyskinesia,ataxia,and limb tremors in CSB patients.However,the understanding of neurodevelopmental defects in CS has been constrained by the lack of significant neurodevelopmental and functional abnormalities observed in CSB-deficient mice.In this review,we focus on elucidating the protein structure and distribution of CSB and delve into the impact of CSB mutations on the development and function of the nervous system.In addition,we provide an overview of research models that have been instrumental in exploring CS disorders,with a forward-looking perspective on the substantial contributions that brain organoids are poised to further advance this field.
文摘BACKGROUND Cockayne syndrome(CS)is a rare inherited disease characterized by progressive motor symptoms including muscle weakness,joint contracture,ataxia,and spasticity.Botulinum neurotoxin type A has been used for conditions such as dystonia and spasticity,but it has rarely been used in patients with CS.CASE SUMMARY We report a 6-year-and-9-mo old girl diagnosed with CS who received an injection of botulinum neurotoxin type A to manage her difficulty with walking.A total dose of 210 units of botulinum neurotoxin type A was administered into the bilateral tibialis posterior and gastrocnemius muscles.To evaluate the treatment effects on spasticity,joint contracture,pain,and ataxia,measurement tools including the Modified Ashworth Scale,the passive range of motion,the Faces Pain Scale-Revised,and the Scale for the Assessment and Rating of Ataxia,were employed.The first week after the injection,the Modified Ashworth Scale score for the plantar flexors and foot invertors improved bilaterally,along with advancements in the passive range of motion of the bilateral ankles and a lower score for the Faces Pain Scale-Revised.These treatment effects persisted to the 8th week post-injection,but returned to baseline values at the 12th week post-injection,except for the pain scale.CONCLUSION Botulinum toxin injection can thus be considered as a treatment option for lower extremity spasticity,joint contracture,and pain derived from CS.
