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.
|Hereditary neurological disorders|
|Autosomal dominant cerebellar ataxia, deafness and narcolepsy|
|Autosomal recessive spastic paraplegia type 44|
|Brain malformations with urinary tract defects|
|Brain small vessel disease with hemorrhage|
|Congenital insensitivity to pain with anhidrosis|
|Hereditary benign chorea|
|Hereditary brain tumors|
|Hereditary distal motor neuron neuropathy type 5A|
|Hereditary muscle diseases|
|Hereditary sensory and autonomic neuropathy type 2A|
|Hereditary sensory neuropathy type 1E|
|Hypokalemic periodic paralysis 1|
|Hypomyelinating Leukodystrophy 2|
|Idiopathic basal ganglia calcification 1|
|Intellectual disability-severe speech delay-mild dysmorphism syndrome|
|Nemaline myopathy 5|
|Severe neonatal-onset encephalopathy with microcephaly|
|Spastic paraplegia 17 with amyotrophy of hands and feet|
|Susceptibility to glioma|
|Tuberous sclerosis complex|
|X-linked syndromic mental retardation 13|
Auer-Grumbach M et al. (2005) Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.
Bruyn RP et al. (1993) Autosomal recessive paraparesis with amyotrophy of the hands and feet.
None (1966) Familial spastic paraplegia with amyotrophy of the hands.
Patel H et al. (2001) Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci.
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.
van Gent EM et al. (1985) Distal amyotrophy of predominantly the upper limbs with pyramidal features in a large kinship.
Irobi J et al. (2004) Molecular genetics of distal hereditary motor neuropathies.
Chaudhry R et al. (2013) Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.
Ionasescu VV et al. (1991) Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy.
Windpassinger C et al. (2003) Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes.
Brusse E et al. (2009) A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?
Ito D et al. (2009) Seipinopathy: a novel endoplasmic reticulum stress-associated disease.
Ito D et al. (2007) Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases.
van de Warrenburg BP et al. (2006) BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy.
Windpassinger C et al. (2004) Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
OMIM.ORG articleOmim 270685
Wikipedia articleWikipedia EN (Hereditary_spastic_paraplegia)