Advances in the hereditary spastic paraplegias

被引：101

作者：

Fink, JK

机构：

[1] Univ Michigan, Dept Neurol, Ann Arbor, MI USA

[2] Ann Arbor Vet Affairs Med Ctr, Ctr Geriatr Res Educ & Clin, Ann Arbor, MI USA

来源：

EXPERIMENTAL NEUROLOGY | 2003年 / 184卷

关键词：

D O I：

10.1016/j.expneurol.2003.08.005

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

This review summarizes advances in understanding the genetics of the hereditary spastic paraplegias (HSPs), a diverse group of inherited disorders in which the primary symptom is insidiously progressive difficulty walking due to lower extremity spastic weakness. Twenty HSP loci and nine HSP genes have been discovered. This progress has yielded new insights into the diverse molecular pathogenesis that underlies these clinically similar disorders. (C) 2003 Elsevier Inc. All rights reserved.

引用

页码：S106 / S110

页数：5

共 27 条

[1] Azim AC, 2000, AM J HUM GENET, V67, P197
[2] Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders
Bateman, A
Jouet, M
MacFarlane, J
Du, JS
Kenwrick, S
Chothia, C
[J]. EMBO JOURNAL, 1996, 15 (22) : 6050 - 6059
[3] STRUMPELLS FAMILIAL SPASTIC PARAPLEGIA - GENETICS AND NEUROPATHOLOGY
BEHAN, WMH
MAIA, M
[J]. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1974, 37 (01) : 8 - 20
[4] X-LINKED PURE FAMILIAL SPASTIC PARAPARESIS - CHARACTERIZATION OF A LARGE KINDRED WITH MAGNETIC-RESONANCE-IMAGING STUDIES
CAMBI, F
TARTAGLINO, L
LUBLIN, F
MCCARREN, D
[J]. ARCHIVES OF NEUROLOGY, 1995, 52 (07) : 665 - 669
[5] Charvin D, 2002, AM J HUM GENET, V71, P516
[6] Disruption of the mouse L1 gene leads to malformations of the nervous system
Dahme, M
Bartsch, U
Martini, R
Anliker, B
Schachner, M
Mantei, N
[J]. NATURE GENETICS, 1997, 17 (03) : 346 - 349
[7] THE STRUCTURAL GENE CODING FOR MYELIN-ASSOCIATED PROTEOLIPID PROTEIN IS MUTATED IN JIMPY MICE
DAUTIGNY, A
MATTEI, MG
MORELLO, D
ALLIEL, PM
PHAMDINH, D
AMAR, L
ARNAUD, D
SIMON, D
MATTEI, JF
GUENET, JL
JOLLES, P
AVNER, P
[J]. NATURE, 1986, 321 (6073) : 867 - 869
[8] Dube MP, 1997, AM J HUM GENET, V61, pA169
[9] Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics
Errico, A
Ballabio, A
Rugarli, EI
[J]. HUMAN MOLECULAR GENETICS, 2002, 11 (02) : 153 - 163
[10] The hereditary spastic paraplegias - Nine genes and counting
Fink, JK
[J]. ARCHIVES OF NEUROLOGY, 2003, 60 (08) : 1045 - 1049

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