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Compound heterozygous mutations in tripeptidyl peptidase 1 cause rare autosomal recessive spinocerebellar ataxia type 7:A case report
《World Journal of Clinical Cases》2023年第27期6618-6623,共6页Rui-Han Liu Xin-Yu Wang Yuan-Yuan Jia Xing-Chen Wang Min Xia Qiong Nie Jia Guo Qing-Xia Kong 
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.
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 cerebell...
关键词：Spinocerebellar ataxia recessive type 7 Tripeptidyl peptidase 1 Compound heterozygous variant Case report 
X-linked recessive Kallmann syndrome:A case report
《World Journal of Clinical Cases》2022年第25期8990-8997,共8页Ping Zhang Jing-Yun Fu 
Supported by the National Natural Science Foundation of China,No.81860265;the Special Foundation for Discipline Leaders of High-level Health Technical Talents in Yunnan Province,No.D-2018035。
BACKGROUND Kallmann syndrome(KS),also known as hypogonadotropic hypogonadism(HH)or olfactory-gonadal dysplasia,is a genetic condition in which the primary symptom is a failure to begin puberty or a failure to fully co...
关键词：X-linked recessive Kallmann syndrome Gonadotropin-releasing hormone Hormone replacement therapy DIAGNOSIS TREATMENT Case report 
Autosomal recessive spinocerebellar ataxia type 4 with a VPS13D mutation:A case report
《World Journal of Clinical Cases》2022年第2期703-708,共6页Xin Huang Dong-Sheng Fan 
BACKGROUND Autosomal recessive spinocerebellar ataxia type 4(SCAR4)is a type of SCA that is a group of hereditary diseases characterized by gait ataxia.The main clinical features of SCAR4 are progressive cerebellar at...
关键词：Spinocerebellar ataxia RECESSIVE VPS13D gene Compound heterozygous mutation Case report 
Novel frameshift mutation in the SACS gene causing spastic ataxia of charlevoix-saguenay in a consanguineous family from the Arabian Peninsula:A case report and review of literature被引量：3
《World Journal of Clinical Cases》2020年第8期1477-1488,共12页Abdullah Al-Ajmi Sarah Shamsah Aleksandar Janicijevic Michayla Williams Fahd Al-Mulla 
BACKGROUND Familial cases of autosomal recessive spastic ataxia of charlevoix-saguenay have not been reported in the Arabian Peninsula,although the consanguineous marriage rate is very high.We report the first family ...
关键词：ATAXIA Autosomal RECESSIVE SPASTIC ATAXIA of charlevoix-saguenay Sacsin SACS mutation ARABIA Next generation sequencing Case report 
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