Hereditary spastic paraplegia

被引:207
作者
Fink, John K.
机构
[1] Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USA
[2] Ann Arbor VA Med Ctr, Ctr Geriatr Res Educ & Clin, Ann Arbor, MI 48109 USA
关键词
D O I
10.1007/s11910-996-0011-1
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
The hereditary spastic paraplegias (HSPs) comprise a large group of inherited neurologic disorders. HSP is classified according to the mode of inheritance, the HSP focus when known, and whether the spastic paraplegia syndrome occurs alone or is accompanied by additional neurologic or systemic abnormalities. Analysis of 11 recently discovered HSP genes provides insight into HSP pathogenesis. Hereditary spastic paraplegia is a clinical diagnosis for which laboratory confirmation is sometimes possible, and careful exclusion of alternate and co-existing disorders is an important element in HSP diagnosis. Treatment for HSP is presently limited to symptomatic reduction of muscle spasticity, reduction in urinary urgency, and strength and gait improvement through physical therapy. Prenatal genetic testing in HSP is possible for some individuals with the increasing availability of HSP gene analysis.
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页码:65 / 76
页数:12
相关论文
共 148 条
[1]   Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A [J].
Abel, A ;
Fonknechten, N ;
Hofer, A ;
Dürr, A ;
Cruaud, C ;
Voit, T ;
Weissenbach, J ;
Brice, A ;
Klimpe, S ;
Auburger, G ;
Hazan, J .
NEUROGENETICS, 2004, 5 (04) :239-243
[2]  
ASHLEYKOCH A, 2005, IN PRESS AM J HUM GE
[3]   Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia [J].
Atorino, L ;
Silvestri, L ;
Koppen, M ;
Cassina, L ;
Ballabio, A ;
Marconi, R ;
Langer, T ;
Casari, G .
JOURNAL OF CELL BIOLOGY, 2003, 163 (04) :777-787
[4]   Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation [J].
Auer-Grumbach, M ;
Schlotter-Weigel, B ;
Lochmüller, H ;
Strobl-Wildemann, G ;
Auer-Grumbach, P ;
Fischer, R ;
Offenbacher, H ;
Bernhard, E ;
Robl, T ;
Hartl, G ;
Hartung, HP ;
Wagner, M ;
Windpassinger, C .
ANNALS OF NEUROLOGY, 2005, 57 (03) :415-424
[5]   Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders [J].
Bateman, A ;
Jouet, M ;
MacFarlane, J ;
Du, JS ;
Kenwrick, S ;
Chothia, C .
EMBO JOURNAL, 1996, 15 (22) :6050-6059
[6]  
Battistella PA, 1997, GIORN NEUROPSI EVOL, V17, P201
[7]   STRUMPELLS FAMILIAL SPASTIC PARAPLEGIA - GENETICS AND NEUROPATHOLOGY [J].
BEHAN, WMH ;
MAIA, M .
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1974, 37 (01) :8-20
[8]   A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32 [J].
Blumen, SC ;
Bevan, S ;
Abu-Mouch, S ;
Negus, D ;
Kahana, M ;
Inzelberg, R ;
Mazarib, A ;
Mahamid, A ;
Carasso, RL ;
Slor, H ;
Withers, D ;
Nisipeanu, P ;
Navon, R ;
Reid, E .
ANNALS OF NEUROLOGY, 2003, 54 (06) :796-803
[9]   Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28) [J].
Bouslam, N ;
Benomar, A ;
Azzedine, H ;
Bouhouche, A ;
Namekawa, M ;
Klebe, S ;
Charon, C ;
Durr, A ;
Ruberg, M ;
Brice, A ;
Yahyaoui, M ;
Stevanin, G .
ANNALS OF NEUROLOGY, 2005, 57 (04) :567-571
[10]  
BUGE A, 1979, REV NEUROL, V135, P329