一个复杂型家族性痉挛性截瘫家系定位于2号染色体短臂的SPG4位点。
Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.
作者信息
Heinzlef O, Paternotte C, Mahieux F, Prud'homme J F, Dien J, Madigand M, Pouget J, Weissenbach J, Roullet E, Hazan J
机构信息
Service de Neurologie, Hôpital Tenon, Paris, France.
出版信息
J Med Genet. 1998 Feb;35(2):89-93. doi: 10.1136/jmg.35.2.89.
Abstract
Autosomal dominant familial spastic paraplegia (AD-FSP) is a degenerative disorder of the central motor system characterised by progressive spasticity of the lower limbs. AD-FSP has been divided into pure and complicated forms. Pure AD-FSP is genetically heterogeneous; three loci have been mapped to chromosomes 14q (SPG3), 2p (SPG4), and 15q (SPG6), whereas no loci responsible for complicated forms have been identified to date. Here we report linkage to the SPG4 locus in a three generation family with AD-FSP complicated by dementia and epilepsy. Assuming that both forms of AD-FSP are caused by mutations involving the same FSP gene, analysis of recombination events in this family positions the SPG4 gene within a 0 cM interval flanked by loci D2S2255 and D2S2347.
摘要
常染色体显性遗传性家族性痉挛性截瘫（AD - FSP）是中枢运动系统的一种退行性疾病，其特征为下肢进行性痉挛。AD - FSP已被分为单纯型和复杂型。单纯型AD - FSP在遗传上具有异质性；三个基因座已被定位到染色体14q（SPG3）、2p（SPG4）和15q（SPG6），而迄今为止尚未确定导致复杂型的基因座。在此我们报告一个三代家族的AD - FSP与痴呆和癫痫并发，与SPG4基因座连锁。假设两种形式的AD - FSP均由涉及同一FSP基因的突变引起，对该家族重组事件的分析将SPG4基因定位在由基因座D2S2255和D2S2347侧翼的0 cM区间内。
相似文献
1
Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.一个复杂型家族性痉挛性截瘫家系定位于2号染色体短臂的SPG4位点。
J Med Genet. 1998 Feb;35(2):89-93. doi: 10.1136/jmg.35.2.89.
2
Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p.常染色体显性遗传性家族性痉挛性截瘫新基因座与2号染色体短臂的连锁关系。
Hum Mol Genet. 1994 Sep;3(9):1569-73. doi: 10.1093/hmg/3.9.1569.
3
Familial spastic paraplegia: evidence for a fourth locus.
Clin Neurol Neurosurg. 1997 May;99(2):87-90. doi: 10.1016/s0303-8467(97)00602-1.
4
Isolation of CAG/CTG repeats from within the chromosome 2p21-p24 locus for autosomal dominant spastic paraplegia (SPG4) by YAC fragmentation.通过酵母人工染色体（YAC）片段化从2号染色体p21-p24位点内分离用于常染色体显性遗传性痉挛性截瘫（SPG4）的CAG/CTG重复序列。
Hum Genet. 1999 Sep;105(3):217-25. doi: 10.1007/s004390051092.
5
'Complicated' autosomal dominant familial spastic paraplegia is genetically distinct from 'pure' forms.“复杂型”常染色体显性遗传性家族性痉挛性截瘫在基因上与“单纯型”不同。
Arch Neurol. 1997 Apr;54(4):379-84. doi: 10.1001/archneur.1997.00550160027011.
6
Extensive genetic heterogeneity in the "pure" form of autosomal dominant familial spastic paraplegia (Strümpell's disease).
Muscle Nerve. 1996 Nov;19(11):1435-8. doi: 10.1002/(SICI)1097-4598(199611)19:11<1435::AID-MUS8>3.0.CO;2-D.
7
Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q.14号染色体q臂精细家族性痉挛性截瘫区间全基因组图谱数据的质量评估
Genome Res. 1998 Nov;8(11):1216-27. doi: 10.1101/gr.8.11.1216.
8
Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family.在一个大型德国家系中，具有遗传早现现象的常染色体显性遗传性痉挛性截瘫定位于2号染色体p21 - p24区域的一个4厘摩区间。
Hum Genet. 1996 Sep;98(3):371-5. doi: 10.1007/s004390050223.
9
Molecular genetics of familial spastic paraplegia: a multitude of responsible genes.家族性痉挛性截瘫的分子遗传学：众多致病基因
J Neurol Sci. 1996 May;137(2):131-8. doi: 10.1016/0022-510x(95)00349-7.
10
A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.位于2号染色体q24 - q34区域的常染色体显性遗传性单纯性痉挛性截瘫的一个新基因座。
Am J Hum Genet. 2000 Feb;66(2):702-7. doi: 10.1086/302776.
引用本文的文献
1
A Complex Phenotype of a Patient with Spastic Paraplegia Type 4 Caused by a Novel Pathogenic Variant in the Gene.由该基因中的一种新型致病变异导致的4型痉挛性截瘫患者的复杂表型。
Case Rep Neurol. 2021 Dec 7;13(3):763-771. doi: 10.1159/000520433. eCollection 2021 Sep-Dec.
2
Truncating mutations in patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.患者中的截短突变与遗传性痉挛性截瘫的高精神疾病共病率相关。
J Neurol Neurosurg Psychiatry. 2017 Aug;88(8):681-687. doi: 10.1136/jnnp-2017-315796. Epub 2017 Jun 1.
3
The coexistence of multiple sclerosis and hereditary spastic paraparesis in a patient.一名患者同时患有多发性硬化症和遗传性痉挛性截瘫。
Neurol Int. 2013 Jun 25;5(2):17-9. doi: 10.4081/ni.2013.e6.
4
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.SPG30 中的 KIF1A 错义突变，常染色体隐性痉挛性截瘫：根据突变性质的不同，表现出不同的表型。
Eur J Hum Genet. 2012 Jun;20(6):645-9. doi: 10.1038/ejhg.2011.261. Epub 2012 Jan 18.
5
Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.CYP7B1 基因内的序列改变表明胆固醇稳态缺陷与运动神经元变性有关。
Am J Hum Genet. 2008 Feb;82(2):510-5. doi: 10.1016/j.ajhg.2007.10.001. Epub 2008 Jan 18.
6
Hereditary spastic paraplegia.遗传性痉挛性截瘫
Curr Neurol Neurosci Rep. 2006 Jan;6(1):65-76. doi: 10.1007/s11910-996-0011-1.
7
A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia.一种与纯合形式的常染色体显性遗传性痉挛性截瘫相关的新型NIPA1突变。
Neurogenetics. 2005 May;6(2):79-84. doi: 10.1007/s10048-004-0209-9. Epub 2005 Feb 12.
8
Basic genetics for the clinical neurologist.临床神经科医生的基础遗传学
J Neurol Neurosurg Psychiatry. 2002 Dec;73 Suppl 2(Suppl 2):II5-11. doi: 10.1136/jnnp.73.suppl_2.ii5.
9
Hereditary spastic paraparesis: a review of new developments.遗传性痉挛性截瘫：新进展综述
J Neurol Neurosurg Psychiatry. 2000 Aug;69(2):150-60. doi: 10.1136/jnnp.69.2.150.
10
A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity.一个常染色体显性“纯”遗传性痉挛性截瘫的新基因座定位于12号染色体q13区，以及存在进一步遗传异质性的证据。
Am J Hum Genet. 1999 Sep;65(3):757-63. doi: 10.1086/302555.
本文引用的文献
1
FAMILIAL AMYOTROPHIC DYSTONIC PARAPLEGIA.家族性肌萎缩性肌张力障碍性截瘫
Brain. 1964 Mar;87:51-66. doi: 10.1093/brain/87.1.51.
2
Pure hereditary spastic paraplegia.纯遗传性痉挛性截瘫
J Med Genet. 1997 Jun;34(6):499-503. doi: 10.1136/jmg.34.6.499.
3
Pure familial spastic paraplegia: clinical and genetic analysis of nine Belgian pedigrees.纯合子家族性痉挛性截瘫：九个比利时家系的临床与遗传学分析
Eur J Hum Genet. 1996;4(5):260-6. doi: 10.1159/000472212.
4
Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2.
Brain. 1996 Oct;119 ( Pt 5):1487-96. doi: 10.1093/brain/119.5.1487.
5
Hereditary spastic paraplegia with dementia.伴有痴呆的遗传性痉挛性截瘫
Aust N Z J Psychiatry. 1995 Dec;29(4):678-82. doi: 10.3109/00048679509064985.
6
Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family.在一个大型德国家系中，具有遗传早现现象的常染色体显性遗传性痉挛性截瘫定位于2号染色体p21 - p24区域的一个4厘摩区间。
Hum Genet. 1996 Sep;98(3):371-5. doi: 10.1007/s004390050223.
7
A comprehensive genetic map of the human genome based on 5,264 microsatellites.基于5264个微卫星构建的人类基因组综合遗传图谱。
Nature. 1996 Mar 14;380(6570):152-4. doi: 10.1038/380152a0.
8
Incorrect specification of marker allele frequencies: effects on linkage analysis.标记等位基因频率的错误设定：对连锁分析的影响。
Am J Hum Genet. 1993 Jun;52(6):1102-10.
9
Hereditary spastic paraplegia associated with epilepsy, mental retardation and hearing impairment.
Paraplegia. 1993 Jun;31(6):408-11. doi: 10.1038/sc.1993.68.
10
X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus.X连锁痉挛性截瘫（SPG2）：单个基因位点的临床异质性。
J Med Genet. 1993 May;30(5):381-4. doi: 10.1136/jmg.30.5.381.
Zotero 插件