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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

Semantic Scholar uses AI to extract papers important to this topic.
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… 
2014
2014
Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany
2013
2013
P.6.10 Phenotypic variability in a French family presenting with seipinopathy
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… 
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… 
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… 
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… 
Highly Cited
2001
Highly Cited
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… 
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