Compound heterozygous mutations in tripeptidyl peptidase 1 cause rare autosomal recessive spinocerebellar ataxia type 7:A case report  

作　　者：Rui-Han Liu Xin-Yu Wang Yuan-Yuan Jia Xing-Chen Wang Min Xia Qiong Nie Jia Guo Qing-Xia Kong 

机构地区：[1]Department of Pediatrics,Affiliated Hospital of Jining Medical University,Jining 272000,Shandong Province,China [2]College of TCM,Shandong University of Traditional Chinese Medicine,Jinan 250012,Shandong Province,China [3]Clinical Medical College,Jining Medical University,Jining 272000,Shandong Province,China [4]Department of Neurology,Affiliated Hospital of Jining Medical University,Jining 272000,Shandong Province,China [5]Cheeloo College of Medicine,Shandong University,Jinan 250012,Shandong Province,China

出　　处：《World Journal of Clinical Cases》2023年第27期6618-6623,共6页世界临床病例杂志

基　　金：Supported by Postdoctoral program of the Affiliated Hospital of Jining Medical University,No.JYFY303573;Health Commission of Shandong Province,No.202006010928;Academician Lin He New Medicine in Jining Medical University,No.JYHL2018FMS05;Affiliated Hospital of Jining Medical University,No.2018-BS-004.

摘　　要：BACKGROUND Spinocerebellar ataxia recessive type 7(SCAR7)is a rare clinical manifestation beginning in childhood or adolescence.SCAR7 is caused by tripeptidyl peptidase 1(TPP1)gene mutations,and presents with cerebellar ataxia,pyramidal signs,neurocognitive impairment,deep paresthesia,and cerebellar atrophy.CASE SUMMARY Here,we describe a 25-year-old female patient in China who presented with increasing difficulty walking,falling easily,shaking limbs,instability holding items,slurred speech,coughing when drinking,palpitations,and frequent hunger and overeating.Magnetic resonance imaging showed cerebellar atrophy.Whole exome sequencing detected two compound heterozygous mutations in the TPP1 gene:c.1468G>A p.Glu490Lys and c.1417G>A p.Gly473Arg.Considering the patient’s clinical presentation and genetic test results,we hypothesized that complex heterozygous mutations cause TPP1 enzyme deficiency,which may lead to SCAR7.CONCLUSION We report the first case of SCAR7 from China.We also identify novel compound heterozygous mutations in the TPP1 gene associated with SCAR7,expanding the range of known disease-causing mutations for SCAR7.

关 键 词：Spinocerebellar ataxia recessive type 7 Tripeptidyl peptidase 1 Compound heterozygous variant Case report 

分 类 号：R744.8[医药卫生—神经病学与精神病学]