Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Spastic paraplegia 17 with amyotrophy of hands and feet

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.

Systematic

Hereditary neurological disorders
Alzheimer disease
Arts syndrome
Autism
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
Brunner syndrome
Charcot-Marie-Tooth disease
Congenital insensitivity to pain with anhidrosis
Hereditary benign chorea
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
Migraine
Nemaline myopathy 5
Porencephaly
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Spastic paraplegia 17 with amyotrophy of hands and feet
BSCL2
Susceptibility to glioma
Vascular dementia
X-linked syndromic mental retardation 13

References:

1.

Windpassinger C et al. (2004) Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.

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2.

Auer-Grumbach M et al. (2005) Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.

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3.

van de Warrenburg BP et al. (2006) BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy.

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4.

Ito D et al. (2007) Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases.

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5.

Ito D et al. (2009) Seipinopathy: a novel endoplasmic reticulum stress-associated disease.

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6.

Brusse E et al. (2009) A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?

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7.

Windpassinger C et al. (2003) Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes.

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8.

Ionasescu VV et al. (1991) Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy.

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9.

Chaudhry R et al. (2013) Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.

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10.

Irobi J et al. (2004) Molecular genetics of distal hereditary motor neuropathies.

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11.

van Gent EM et al. (1985) Distal amyotrophy of predominantly the upper limbs with pyramidal features in a large kinship.

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12.

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.

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13.

Patel H et al. (2001) Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci.

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14.

None (1966) Familial spastic paraplegia with amyotrophy of the hands.

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15.

Bruyn RP et al. (1993) Autosomal recessive paraparesis with amyotrophy of the hands and feet.

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16.

OMIM.ORG article

Omim 270685 [^]
17.

Wikipedia article

Wikipedia EN (Hereditary_spastic_paraplegia) [^]
Update: April 29, 2019