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Novel mutation of spg4 gene in a Chinese family with hereditary spastic paraplegia:A case report

World Journal of Clinical Cases 2023年第14期11卷 3288-3294页

作者： Jie Wang Wei-Ting Bu Mei-Jia Zhu Ji-You Tang Xiao-Min Liu Department of Neurology Shandong Provincial Qianfoshan HospitalShandong University of Traditional Chinese MedicineJinan 250014Shandong ProvinceChina Department of Neurology Shandong Provincial Qianfoshan HospitalWeifang Medical UniversityJinan 250014Shandong ProvinceChina Department of Neurology The First Affiliated Hospital of Shandong First Medical University&Shandong Provincial Qianfoshan HospitalJinan 250014Shandong ProvinceChina

BACKGROUND Hereditary spastic paraplegia(HSP)is a group of neurogenetic diseases of the corticospinal tract,accompanied by distinct spasticity and weakness of the lower *** in the spastic paraplegia type 4(spg4)gene,encoding the spastin protein,are the major cause of the *** study reported a Chinese family with HSP caused by a novel mutation of the spg4 *** SUMMARY A 44-year-old male was admitted to our hospital for long-term right lower limb weakness,leg stiffness,and unstable *** symptoms gradually worsened,while no obvious muscle atrophy in the lower limbs was *** examinations revealed that the muscle strength of the lower limbs was normal,and knee reflex hyperreflexia and bilateral positive Babinski signs were *** of his family also had the same *** mutation analysis,a novel heterozygous duplication mutation,c.1053dupA,p.(Gln352Thrfs*15),was identified in the spg4 gene in this *** A Chinese family with HSP had a novel mutation of the spg4 gene,which is autosomal dominant and inherited as pure *** age of onset,sex distribution,and clinical manifestations of all existing living patients in this family were *** findings may extend the current knowledge on the existing mutations in the spg4 gene.

关键词： Hereditary spastic paraplegia spg4 gene Mutation genetic testing Autosomal dominant HSP Adenosine triphosphatases associated with diverse cellular activities Case report

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