Complicated hereditary spastic paraplegia with thin corpus callosum: Variation of phenotypic expression over time

被引：0
作者：
Anne-Dörte Sperfeld
Jan Kassubek
Andrew H. Crosby
Beate Winner
Albert C. Ludolph
Ingo Uttner
C. Oliver Hanemann
机构：
[1] University of Ulm,Dept. of Neurology
[2] St. George’s Hospital Medical School,Dept. of Medical Genetics
[3] University of London,undefined
[4] Dept. of Neurology,undefined
来源：
Journal of Neurology | 2004年 / 251卷
关键词：
Corpus Callosum; Paraplegia; Phenotypic Expression; Hereditary Spastic Paraplegia; Thin Corpus Callosum;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
页码：1285 / 1287
页数：2
相关论文
共 50 条
[31]   Expanding the clinical spectrum of SPG11 gene mutations in recessive hereditary spastic paraplegia with thin corpus callosum [J].
Aleem, Alice Abdel ;
Abu-Shahba, Nourhan ;
Swistun, Dominika ;
Silhavy, Jennifer ;
Bielas, Stephanie L. ;
Sattar, Shifteh ;
Gleeson, Joseph G. ;
Zaki, Maha S. .
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2011, 54 (01) :82-85
[32]   Genetic and phenotypic characterization of complex hereditary spastic paraplegia [J].
Kara, Eleanna ;
Tucci, Arianna ;
Manzoni, Claudia ;
Lynch, David S. ;
Elpidorou, Marilena ;
Bettencourt, Conceicao ;
Chelban, Viorica ;
Manole, Andreea ;
Hamed, Sherifa A. ;
Haridy, Nourelhoda A. ;
Federoff, Monica ;
Preza, Elisavet ;
Hughes, Deborah ;
Pittman, Alan ;
Jaunmuktane, Zane ;
Brandner, Sebastian ;
Xiromerisiou, Georgia ;
Wiethoff, Sarah ;
Schottlaender, Lucia ;
Proukakis, Christos ;
Morris, Huw ;
Warner, Tom ;
Bhatia, Kailash P. ;
Korlipara, L. V. Prasad ;
Singleton, Andrew B. ;
Hardy, John ;
Wood, Nicholas W. ;
Lewis, Patrick A. ;
Houlden, Henry .
BRAIN, 2016, 139 :1904-1918
[33]   A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum [J].
Blumkin, Lubov ;
Lerman-Sagie, Tally ;
Lev, Dorit ;
Yosovich, Keren ;
Leshinsky-Silver, Esther .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 2011, 305 (1-2) :67-70
[34]   Case report: Novel mutations in the SPG11 gene in a case of autosomal recessive hereditary spastic paraplegia with a thin corpus callosum [J].
Duan, Ji-Qing ;
Liu, Hui ;
Wu, Jia-Qiao .
FRONTIERS IN INTEGRATIVE NEUROSCIENCE, 2023, 17
[35]   A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum [J].
Amir Boukhris ;
Imed Feki ;
Nizar Elleuch ;
Mohamed Imed Miladi ;
Anne Boland-Augé ;
Jérémy Truchetto ;
Emeline Mundwiller ;
Nadia Jezequel ;
Diana Zelenika ;
Chokri Mhiri ;
Alexis Brice ;
Giovanni Stevanin .
neurogenetics, 2010, 11 :441-448
[36]   A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum [J].
Boukhris, Amir ;
Feki, Imed ;
Elleuch, Nizar ;
Miladi, Mohamed Imed ;
Boland-Auge, Anne ;
Truchetto, Jeremy ;
Mundwiller, Emeline ;
Jezequel, Nadia ;
Zelenika, Diana ;
Mhiri, Chokri ;
Brice, Alexis ;
Stevanin, Giovanni .
NEUROGENETICS, 2010, 11 (04) :441-448
[37]   Triple A syndrome presenting as complicated hereditary spastic paraplegia [J].
Leveille, Etienne ;
Gonorazky, Hernan D. ;
Rioux, Marie-France ;
Hazrati, Lili-Naz ;
Ruskey, Jennifer A. ;
Carnevale, Amanda ;
Spiegelman, Dan ;
Dionne-Laporte, Alexandre ;
Rouleau, Guy A. ;
Yoon, Grace ;
Gan-Or, Ziv .
MOLECULAR GENETICS & GENOMIC MEDICINE, 2018, 6 (06) :1134-1139
[38]   Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia [J].
Xing, Fu ;
Du, Juan .
NEUROLOGICAL SCIENCES, 2022, 43 (08) :4989-4996
[39]   Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia [J].
Fu Xing ;
Juan Du .
Neurological Sciences, 2022, 43 :4989-4996
[40]   Autosomal recessive hereditary spastic paraparesis with thin corpus callosum; report of two sisters [J].
Vucic, S ;
Lye, T ;
Dunn, G ;
Corbett, A .
JOURNAL OF CLINICAL NEUROSCIENCE, 2004, 11 (04) :427-430
12345