Spastic paraplegia 17

Known as: SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT, SPASTIC PARAPLEGIA WITH AMYOTROPHY OF HANDS AND FEET, Spg17 
 
National Institutes of Health

Related topics

Related topics

5 relations
Autosomal dominant inheritanceDistal amyotrophyLower limb muscle weaknessTalipes cavus

Broader (1)

Spastic Paraplegia, Hereditary

Papers overview

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2016
2016
ALS and MMN mimics in patients with BSCL2 mutations: the expanding clinical spectrum of SPG17 hereditary spastic paraplegia
Silver syndrome/SPG17 is a motor manifestation of mutations in the BSCL2 gene and usually presents as a complicated form of… Expand
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2014
2014
Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany
OBJECTIVE Hereditary spastic paraparesis or paraplegias (HSPs) are a group of neurogenetic conditions with prominent involvement… Expand
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2013
2013
P.6.10 Phenotypic variability in a French family presenting with seipinopathy
Seipinopathies are a group of inherited diseases affecting upper and lower motor neurons due to mutations in the BSCL2 gene… Expand
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2011
2011
[BSCL2-related neurologic disorders/seipinopathy: endoplasmic reticulum stress in neurodegeneration].
The Seipin/BSCL2 gene was originally identified as a loss-of-function gene for congenital generalized lipodystrophy type 2, a… Expand
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Review
2009
Review
2009
Seipinopathy: a novel endoplasmic reticulum stress-associated disease.
The Seipin/BSCL2 gene was originally identified as a loss-of-function gene for congenital generalized lipodystrophy type 2 (CGL2… Expand
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2008
2008
The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation
Silver syndrome (SPG17) is a rare form of hereditary spastic paraparesis. Its relationship to distal hereditary motor neuropathy… Expand
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2003
2003
Refinement of the "Silver syndrome locus" on chromosome 11q12-q14 in four families and exclusion of eight candidate genes
Silver syndrome is a rare variant of autosomal dominant complicated hereditary spastic paraparesis (HSP), in which spasticity of… Expand
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2001
2001
The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype.
The hereditary spastic paraplegias (HSPs) are a complex group of neurodegenerative disorders characterized by lower-limb… Expand
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