Child Neurology: Hereditary spastic paraplegia in children

被引:32
作者
de Bot, S. T. [1 ]
van de Warrenburg, B. P. C. [1 ]
Kremer, H. P. H. [3 ]
Willemsen, M. A. A. P. [2 ]
机构
[1] Radboud Univ Nijmegen, Med Ctr, Dept Neurol, Donders Ctr Brain Cognit & Behav, NL-6500 HB Nijmegen, Netherlands
[2] Radboud Univ Nijmegen, Med Ctr, Dept Paediat Neurol, Donders Ctr Brain Cognit & Behav, NL-6500 HB Nijmegen, Netherlands
[3] Univ Groningen, Univ Med Ctr Groningen, Dept Neurol, NL-9713 AV Groningen, Netherlands
关键词
MUTATION; ONSET; SPECTRUM;
D O I
10.1212/WNL.0b013e3181fc2776
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
[No abstract available]
引用
收藏
页码:E75 / E79
页数:5
相关论文
共 10 条
[1]  
APPLETON RE, 1991, DEV MED CHILD NEUROL, V33, P304
[2]   REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31 [J].
Beetz, Christian ;
Schuele, Rebecca ;
Deconinck, Tine ;
Tran-Viet, Khanh-Nhat ;
Zhu, Hui ;
Kremer, Berry P. H. ;
Frints, Suzanna G. M. ;
van Zelst-Stams, Wendy A. G. ;
Byrne, Paula ;
Otto, Susanne ;
Nygren, Anders O. H. ;
Baets, Jonathan ;
Smets, Katrien ;
Ceulemans, Berten ;
Dan, Bernard ;
Nagan, Narasimhan ;
Kassubek, Jan ;
Klimpe, Sven ;
Klopstock, Thomas ;
Stolze, Henning ;
Smeets, Hubert J. M. ;
Schrander-Stumpel, Constance T. R. M. ;
Hutchinson, Michael ;
van de Warrenburg, Bart P. ;
Braastad, Corey ;
Deufel, Thomas ;
Pericak-Vance, Margaret ;
Schoels, Ludger ;
de Jonghe, Peter ;
Zuechner, Stephan .
BRAIN, 2008, 131 :1078-1086
[3]   Childhood-onset spastic paraplegia with NIPA1 gene mutation [J].
Bien-Willner, Ricardo ;
Sambuughin, Nyamkhishig ;
Holley, Heather ;
Bodensteiner, John ;
Sivakumar, Kumaraswamy .
JOURNAL OF CHILD NEUROLOGY, 2006, 21 (11) :974-977
[4]   Infantile onset of hereditary spastic paraplegia poorly predicts the genotype [J].
Blair, Marcia A. ;
Riddle, Megan E. ;
Wells, Jennifer F. ;
Breviu, Brian A. ;
Hedera, Peter .
PEDIATRIC NEUROLOGY, 2007, 36 (06) :382-386
[5]   Hereditary spastic paraplegias: an update [J].
Depienne, Christel ;
Stevanin, Giovanni ;
Brice, Alexis ;
Durr, Alexandra .
CURRENT OPINION IN NEUROLOGY, 2007, 20 (06) :674-680
[6]   Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia [J].
Fonknechten, N ;
Mavel, D ;
Byrne, P ;
Davoine, CS ;
Cruaud, C ;
Boentsch, D ;
Samson, D ;
Coutinho, P ;
Hutchinson, M ;
McMonagle, P ;
Burgunder, JM ;
Tartaglione, A ;
Heinzlef, O ;
Feki, I ;
Deufel, T ;
Parfrey, N ;
Brice, A ;
Fontaine, B ;
Prud'homme, JF ;
Weissenbach, J ;
Dürr, A ;
Hazan, J .
HUMAN MOLECULAR GENETICS, 2000, 9 (04) :637-644
[7]   SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years [J].
Namekawa, M ;
Ribai, P ;
Nelson, I ;
Forlani, S ;
Fellmann, F ;
Goizet, C ;
Depienne, C ;
Stevanin, G ;
Ruberg, M ;
Dürr, A ;
Brice, A .
NEUROLOGY, 2006, 66 (01) :112-114
[8]   De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy [J].
Rainier, S ;
Sher, C ;
Reish, O ;
Thomas, D ;
Fink, JK .
ARCHIVES OF NEUROLOGY, 2006, 63 (03) :445-447
[9]   Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms [J].
Salinas, Sara ;
Proukakis, Christos ;
Crosby, Andrew ;
Warner, Thomas T. .
LANCET NEUROLOGY, 2008, 7 (12) :1127-1138
[10]   Hereditary spastic paraparesis in adults associated with inborn errors of metabolism: A diagnostic approach [J].
Sedel, F. ;
Fontaine, B. ;
Saudubray, J. M. ;
Lyon-Caen, O. .
JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 (06) :855-864