家族性痉挛性截瘫
Familial spastic paraplegia.
作者信息
Phanthumchinda K, Somrealvongkul B
出版信息
J Med Assoc Thai. 1989 Feb;72(2):62-6.
PMID:2738487
Abstract
Familial spastic paraplegia (FSP) was recorded in three families. The pattern of familial transmission and the onset in the second and third decade of life strongly suggested autosomal dominant inheritance. FSP in this series showed the consistent, classical, clinical features with some inconstant findings (nystagmus, dysarthria, posterior column involvement). Baclofen for the treatment of spasticity is beneficial in this condition and genetic counselling should be considered.
摘要
在三个家族中记录到了家族性痉挛性截瘫（FSP）。家族性传播模式以及在生命的第二个和第三个十年发病强烈提示常染色体显性遗传。本系列中的FSP表现出一致的、典型的临床特征以及一些不恒定的表现（眼球震颤、构音障碍、后柱受累）。巴氯芬用于治疗痉挛在这种情况下是有益的，并且应考虑进行遗传咨询。
相似文献
1
Familial spastic paraplegia.家族性痉挛性截瘫
J Med Assoc Thai. 1989 Feb;72(2):62-6.
2
[Myotonia congenita with familial spastic paraparesis].先天性肌强直伴家族性痉挛性截瘫
Nervenarzt. 1988 Nov;59(11):675-8.
3
[A case of familial spastic paraplegia with the onset in early childhood].[一例儿童早期起病的家族性痉挛性截瘫]
Zh Nevropatol Psikhiatr Im S S Korsakova. 1990;90(3):6-9.
4
Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q.常染色体显性遗传性家族性痉挛性截瘫具有遗传异质性，其中一个基因座定位于14号染色体长臂。
Nat Genet. 1993 Oct;5(2):163-7. doi: 10.1038/ng1093-163.
5
Familial spastic paraplegia: clinical observations and genetic studies.家族性痉挛性截瘫：临床观察与遗传学研究。
Prog Clin Biol Res. 1989;306:205-11.
6
[The clinical characteristics of a pedigree with incompletely penetrated autosomal dominant hereditary spastic paraplegia and its exclusion analysis of genetic loci].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Jun;25(3):304-7.
7
BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy.两个患有重叠性银综合征-远端遗传性运动神经病的荷兰家族中的BSCL2基因突变。
Neuromuscul Disord. 2006 Feb;16(2):122-5. doi: 10.1016/j.nmd.2005.11.003. Epub 2006 Jan 19.
8
Central motor conduction in hereditary motor and sensory neuropathy and hereditary spastic paraplegia.遗传性运动和感觉神经病及遗传性痉挛性截瘫中的中枢运动传导
Electromyogr Clin Neurophysiol. 1999 Sep;39(6):331-5.
9
Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia.含t-复合体多肽-1（Cct5）的胞质伴侣蛋白ε亚基突变导致常染色体隐性遗传性致残性感觉神经病伴痉挛性截瘫。
J Med Genet. 2006 May;43(5):441-3. doi: 10.1136/jmg.2005.039230. Epub 2006 Jan 6.
10
Hereditary spastic paraplegia.遗传性痉挛性截瘫
Orthop Rev. 1992 May;21(5):643-6.
Zotero 插件