A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report

被引：0

作者：

Ashraf Yahia

Zhefan Stephen Chen

Ammar E. Ahmed

Sara Emad

Rawaa Adil

Rayan Abubaker

Shaimaa Omer M. A. Taha

Mustafa A. Salih

Liena Elsayed

Ho Yin Edwin Chan

Giovanni Stevanin

机构：

[1] University of Khartoum,Department of Biochemistry, Faculty of Medicine

[2] National University,Department of Biochemistry, Faculty of Medicine

[3] Institut du Cerveau,School of Life Sciences, Faculty of Science

[4] INSERM U1127,Department of Physiology, Faculty of Medicine

[5] CNRS UMR7225,Faculty of Medicine

[6] Sorbonne Université,Institute of Endemic Diseases

[7] The Chinese University of Hong Kong,Department of Radiology

[8] University of Khartoum,Division of Pediatric Neurology, Department of Pediatrics, College of Medicine

[9] University of Khartoum,Gerald Choa Neuroscience Centre

[10] University of Khartoum,Ecole Pratique des Hautes Etudes, EPHE

[11] Dar Al Elaj Specialized Hospital,undefined

[12] King Saud University,undefined

[13] The Chinese University of Hong Kong,undefined

[14] PSL Research University,undefined

来源：

BMC Neurology | / 21卷

关键词：

Spinocerebellar ataxia type 40; Hereditary spastic paraplegia; Sudan;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

共 13 条

[1] A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report
Yahia, Ashraf
Chen, Zhefan Stephen
Ahmed, Ammar E.
Emad, Sara
Adil, Rawaa
Abubaker, Rayan
Taha, Shaimaa Omer M. A.
Salih, Mustafa A.
Elsayed, Liena
Chan, Ho Yin Edwin
Stevanin, Giovanni
BMC NEUROLOGY, 2021, 21 (01)
[2] A case report of a woman with young onset cognitive impairment associated with hereditary spastic paraplegia due to a mutation in the SPAST gene
Tisher, Annya
Salardini, Arash
JOURNAL OF THE NEUROLOGICAL SCIENCES, 2016, 367 : 131 - 132
[3] A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report
Wang, Xing-Chen
Liu, Rui-Han
Wang, Ting
Wang, Yanling
Jiang, Yan
Chen, Dan-Dan
Wang, Xin-Yu
Hou, Tong-Shu
Kong, Qing-Xia
MOLECULAR MEDICINE REPORTS, 2023, 27 (04)
[4] Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report
Oh, Ja-Young
Do, Hyun Jung
Lee, Seungok
Jang, Ja-Hyun
Cho, Eun-Hae
Jang, Dae-Hyun
ANNALS OF REHABILITATION MEDICINE-ARM, 2016, 40 (06): : 1129 - 1134
[5] Novel mutation of SPG4 gene in a Chinese family with hereditary spastic paraplegia: A case report
Wang, Jie
Bu, Wei-Ting
Zhu, Mei-Jia
Tang, Ji-You
Liu, Xiao-Min
WORLD JOURNAL OF CLINICAL CASES, 2023, 11 (14) : 3288 - 3294
[6] SPG6 (NIPA1 variant): A report of a case with early-onset complex hereditary spastic paraplegia and brief literature review
Spagnoli, Carlotta
Schiavoni, Silvia
Rizzi, Susanna
Salerno, Grazia Gabriella
Frattini, Daniele
Koskenvuo, Juha
Fusco, Carlo
JOURNAL OF CLINICAL NEUROSCIENCE, 2021, 94 : 281 - 285
[7] Hereditary spastic paraplegia due to a novel mutation of the REEP1 gene Case report and literature review
Richard, Sebastien
Lavie, Julie
Banneau, Guillaume
Voirand, Nathalie
Lavandier, Karine
Debouverie, Marc
MEDICINE, 2017, 96 (03)
[8] Novel detection of mutation in the TECPR2 gene in a Chinese hereditary spastic paraplegia 49 patient: a case report
Guan, Yalin
Lu, Hui
Zuo, Wenchao
Wang, Xiaodan
Wang, Shimin
Wang, Xinping
Liu, Feng
Jia, Kun
Gao, Rui
Wu, Hao
Shi, Zhihong
Ji, Yong
BMC NEUROLOGY, 2022, 22 (01)
[9] Novel detection of mutation in the TECPR2 gene in a Chinese hereditary spastic paraplegia 49 patient: a case report
Yalin Guan
Hui Lu
Wenchao Zuo
Xiaodan Wang
Shimin Wang
Xinping Wang
Feng Liu
Kun Jia
Rui Gao
Hao Wu
Zhihong Shi
Yong Ji
BMC Neurology, 22
[10] Novel Frameshift Heterozygous Mutation in UBAP1 Gene Causing Spastic Paraplegia-80: Case Report With Literature Review
Zhang, Chao
Zhu, Xiaowei
Zhu, Zeyu
Ni, Ruilong
Liu, Taotao
Zheng, Haoran
Liu, Shihua
Cao, Li
Zhong, Ping
Tian, Wotu
FRONTIERS IN NEUROLOGY, 2022, 13

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