Mitochondrial analysis in autosomal dominant hereditary spastic paraplegia

被引:10
作者
Hedera, P
DiMauro, S
Bonilla, E
Wald, JJ
Fink, JK
机构
[1] Univ Michigan, Dept Neurol, Ann Arbor, MI 48104 USA
[2] Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY USA
[3] Ann Arbor Vet Affairs Med Ctr, Ctr Geriatr Res Educ & Clin, Ann Arbor, MI USA
关键词
D O I
10.1212/WNL.55.10.1591
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:1591 / 1592
页数:2
相关论文
共 7 条
[1]   Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease [J].
Casari, G ;
De Fusco, M ;
Ciarmatori, S ;
Zeviani, M ;
Mora, M ;
Fernandez, P ;
De Michele, G ;
Filla, A ;
Cocozza, S ;
Marconi, R ;
Dürr, A ;
Fontaine, B ;
Ballabio, A .
CELL, 1998, 93 (06) :973-983
[2]   AUTOSOMAL-DOMINANT, FAMILIAL SPASTIC PARAPLEGIA, TYPE-I - CLINICAL AND GENETIC-ANALYSIS OF A LARGE NORTH-AMERICAN FAMILY [J].
FINK, JK ;
SHARP, GB ;
LANGE, BM ;
WU, CB ;
HALEY, T ;
OTTERUD, B ;
PEACOCK, M ;
LEPPERT, M .
NEUROLOGY, 1995, 45 (02) :325-331
[3]   Hereditary spastic paraplegia, genetic heterogeneity and genotype-phenotype correlation [J].
Fink, JK ;
Hedera, P .
SEMINARS IN NEUROLOGY, 1999, 19 (03) :301-309
[4]   Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia [J].
Hazan, J ;
Fonknechten, N ;
Mavel, D ;
Paternotte, C ;
Samson, D ;
Artiguenave, F ;
Davoine, CS ;
Cruaud, C ;
Dürr, A ;
Wincker, P ;
Brottier, P ;
Cattolico, L ;
Barbe, V ;
Burgunder, JM ;
Prud'homme, JF ;
Brice, A ;
Fontaine, B ;
Heilig, R ;
Weissenbach, J .
NATURE GENETICS, 1999, 23 (03) :296-303
[5]   Phenotypic analysis of autosomal dominant hereditary spastic paraplegia linked to chromosome 8q [J].
Hedera, P ;
DiMauro, S ;
Bonilla, E ;
Wald, J ;
Eldevik, OP ;
Fink, JK .
NEUROLOGY, 1999, 53 (01) :44-50
[6]  
Sciacco M, 1996, Methods Enzymol, V264, P509, DOI 10.1016/S0076-6879(96)64045-2
[7]   Familial spastic paraparesis - Is it a mitochondrial disorder? [J].
Zelnik, N ;
Leshinsky, E ;
Kolodny, EH .
PEDIATRIC NEUROSURGERY, 1995, 23 (04) :225-226