Silver syndrome is an autosomal dominant spastic paraplegia syndrome with amyotrophy of hands and feet. The disorder is caused by gain-of-function mutations of the BSCL2 gene.
1. |
Auer-Grumbach M et al. (2005) Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation. |
2. |
Bruyn RP et al. (1993) Autosomal recessive paraparesis with amyotrophy of the hands and feet. |
3. |
None (1966) Familial spastic paraplegia with amyotrophy of the hands. |
4. |
Patel H et al. (2001) Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci. |
5. |
Patel H et al. (2001) The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype. |
6. |
van Gent EM et al. (1985) Distal amyotrophy of predominantly the upper limbs with pyramidal features in a large kinship. |
7. |
Irobi J et al. (2004) Molecular genetics of distal hereditary motor neuropathies. |
8. |
Chaudhry R et al. (2013) Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation. |
9. |
Ionasescu VV et al. (1991) Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy. |
10. |
Windpassinger C et al. (2003) Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes. |
11. |
Brusse E et al. (2009) A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier? |
12. |
Ito D et al. (2009) Seipinopathy: a novel endoplasmic reticulum stress-associated disease. |
13. |
Ito D et al. (2007) Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases. |
14. |
van de Warrenburg BP et al. (2006) BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. |
15. |
Windpassinger C et al. (2004) Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. |
16. |
OMIM.ORG article Omim 270685 |
17. |
Wikipedia article Wikipedia EN (Hereditary_spastic_paraplegia) |