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1
The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype.遗传性痉挛性截瘫的银综合征变异型定位于11号染色体q12 - q14，有证据表明该亚型存在遗传异质性。
Am J Hum Genet. 2001 Jul;69(1):209-15. doi: 10.1086/321267. Epub 2001 May 25.
2
A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia.
J Neurol. 2004 Sep;251(9):1068-74. doi: 10.1007/s00415-004-0401-8.
3
Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes.
Hum Genet. 2003 Dec;114(1):99-109. doi: 10.1007/s00439-003-1021-6. Epub 2003 Sep 16.
4
A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.与智力迟钝和远端运动神经病相关的常染色体隐性遗传性痉挛性截瘫的一个新位点SPG14，定位于3号染色体q27-q28区域。
Am J Hum Genet. 2000 Aug;67(2):504-9. doi: 10.1086/303017. Epub 2000 Jun 30.
5
A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13.常染色体显性“纯合”遗传性痉挛性截瘫的一个基因座定位于19号染色体长臂1区3带。
Am J Hum Genet. 2000 Feb;66(2):728-32. doi: 10.1086/302783.
6
Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci.
Am J Med Genet. 2001 Jul 22;102(1):68-72. doi: 10.1002/1096-8628(20010722)102:1<68::aid-ajmg1411>3.0.co;2-r.
7
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.
8
A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3.一个常染色体显性“单纯型”遗传性痉挛性截瘫的新基因座定位于8号染色体p21.1-q13.3区域。
Hum Genet. 2007 Nov;122(3-4):261-73. doi: 10.1007/s00439-007-0396-1. Epub 2007 Jun 28.
9
Co-segregation of Huntington disease and hereditary spastic paraplegia in 4 generations.亨廷顿舞蹈症与遗传性痉挛性截瘫在四代人中的共分离现象。
Neurologist. 2011 Jul;17(4):211-2. doi: 10.1097/NRL.0b013e3182173567.
10
Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group.遗传性痉挛性截瘫：遗传学研究进展。遗传性痉挛性截瘫工作组。
Neurology. 1996 Jun;46(6):1507-14. doi: 10.1212/wnl.46.6.1507.

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A De Novo Gene S90L Mutation in a Progressive Tetraparesis with Urinary Dysfunction and Corpus Callosum Involvement.一例伴有排尿功能障碍和胼胝体受累的进行性四肢轻瘫中的新生基因S90L突变
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Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients.靶向下一代测序提高了中国患者遗传性痉挛性截瘫的诊断水平。
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Towards a mechanistic understanding of lipodystrophy and seipin functions.对脂肪营养不良和丝氨酸蛋白酶抑制剂功能的机制性理解
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Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.遗传性痉挛性截瘫：临床病理特征和新兴分子机制。
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8
Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.使用外显子组测序对一个 CMTX3 家族的重新分析确定了一个已知的 BSCL2 突变。
Muscle Nerve. 2013 Jun;47(6):922-4. doi: 10.1002/mus.23743. Epub 2013 Mar 29.
9
Motor neuron degeneration in a mouse model of seipinopathy.Seipinopathy 小鼠模型中的运动神经元退行性变。
Cell Death Dis. 2013 Mar 7;4(3):e535. doi: 10.1038/cddis.2013.64.
10
The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation.首个有证据表明存在锥体功能障碍作为Silver综合征BSCL2基因突变表型表现的意大利家族。
Neurol Sci. 2008 Jun;29(3):189-91. doi: 10.1007/s10072-008-0937-y. Epub 2008 Jul 9.

本文引用的文献

1
Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci.
Am J Med Genet. 2001 Jul 22;102(1):68-72. doi: 10.1002/1096-8628(20010722)102:1<68::aid-ajmg1411>3.0.co;2-r.
2
Novel syndromic form of X-linked complicated spastic paraplegia.
Am J Med Genet. 2000 Sep 4;94(1):1-4. doi: 10.1002/1096-8628(20000904)94:1<1::aid-ajmg1>3.0.co;2-v.
3
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.
4
A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.与智力迟钝和远端运动神经病相关的常染色体隐性遗传性痉挛性截瘫的一个新位点SPG14，定位于3号染色体q27-q28区域。
Am J Hum Genet. 2000 Aug;67(2):504-9. doi: 10.1086/303017. Epub 2000 Jun 30.
5
Chromosomal localization of CCS, the copper chaperone for Cu/Zn superoxide dismutase.
Mamm Genome. 2000 May;11(5):409-11. doi: 10.1007/s003350010078.
6
A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13.常染色体显性“纯合”遗传性痉挛性截瘫的一个基因座定位于19号染色体长臂1区3带。
Am J Hum Genet. 2000 Feb;66(2):728-32. doi: 10.1086/302783.
7
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.
8
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.
9
Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15.隐性家族性痉挛性截瘫一个新基因座的基因定位至15q13 - 15。
Neurology. 1999 Jul 13;53(1):50-6. doi: 10.1212/wnl.53.1.50.
10
Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy.在一个大型意大利家系中，一种表现为双侧白内障、胃食管反流以及伴有肌萎缩的痉挛性截瘫的新综合征被基因定位到10q23.3 - q24.2。
Am J Hum Genet. 1999 Feb;64(2):586-93. doi: 10.1086/302241.

遗传性痉挛性截瘫的银综合征变异型定位于11号染色体q12 - q14，有证据表明该亚型存在遗传异质性。

The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype.

作者信息

Patel H, Hart P E, Warner T T, Houlston R S, Patton M A, Jeffery S, Crosby A H

机构信息

Medical Genetics, St. George's Hospital Medical School, Cranmer Terrace, Tooting, London SW17 0RE, United Kingdom.

出版信息

Am J Hum Genet. 2001 Jul;69(1):209-15. doi: 10.1086/321267. Epub 2001 May 25.

DOI:10.1086/321267
PMID:11389484
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1226036/
Abstract

The hereditary spastic paraplegias (HSPs) are a complex group of neurodegenerative disorders characterized by lower-limb spasticity and weakness. Silver syndrome (SS) is a particularly disabling dominantly inherited form of HSP, complicated by amyotrophy of the hand muscles. Having excluded the multiple known HSP loci, we undertook a genomewide screen for linkage of SS in one large multigenerational family, which revealed evidence for linkage of the SS locus, which we have designated "SPG17," to chromosome 11q12-q14. Haplotype construction and analysis of recombination events permitted the minimal interval defining SPG17 to be refined to approximately 13 cM, flanked by markers D11S1765 and D11S4136. SS in a second family was not linked to SPG17, demonstrating further genetic heterogeneity in HSP, even within this clinically distinct subtype.

摘要

遗传性痉挛性截瘫（HSPs）是一组复杂的神经退行性疾病，其特征为下肢痉挛和无力。西尔弗综合征（SS）是一种特别致残的显性遗传形式的HSP，伴有手部肌肉萎缩。在排除了多个已知的HSP基因座后，我们对一个大型多代家族进行了全基因组筛查以寻找SS的连锁关系，结果显示SS基因座（我们将其命名为“SPG17”）与11号染色体q12 - q14存在连锁证据。单倍型构建和重组事件分析使得定义SPG17的最小区间被精确定位到约13厘摩，两侧为标记D11S1765和D11S4136。第二个家族中的SS与SPG17没有连锁关系，这表明即使在这种临床特征明显的亚型中HSP也存在进一步的遗传异质性。