Spastic paraplegia 17

Also Known As:

Silver spastic paraplegia syndrome; Silver syndrome; Spastic paraplegia with amyotrophy of hands and feet; Spg17

Networked: 6 relevant articles (0 outcomes, 0 trials/studies)

1.	Type V Distal Hereditary Motor Neuronopathy
2.	Spastic paraplegia 17
3.	Congenital Generalized Lipodystrophy (Berardinelli-Seip Congenital Lipodystrophy)
4.	Inborn Genetic Diseases (Disease, Hereditary)
5.	Paraplegia (Spastic Paraplegia)

1.	Bessonova, L A: 1 article (01/2021)
2.	Kadnikova, V A: 1 article (01/2021)
3.	Konovalov, F A: 1 article (01/2021)
4.	Kurbatov, S A: 1 article (01/2021)
5.	Mironovich, O L: 1 article (01/2021)
6.	Rudenskaya, G E: 1 article (01/2021)
7.	Ryzhkova, O P: 1 article (01/2021)
8.	Sparber, P A: 1 article (01/2021)
9.	Blackstone, Craig: 1 article (12/2016)
10.	Falgairolle, Melanie: 1 article (12/2016)

Drugs and Important Biological Agents (IBA) related to Spastic paraplegia 17:

1.	Proteins (Proteins, Gene)FDA Link 08/01/2008 - "Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17." 04/17/2006 - "Seipin is associated with the heterogeneous genetic disease BSCL2, and mutations in an N-glycosylation motif links the protein to two other disorders, autosomal-dominant distal hereditary motor neuropathy type V and Silver syndrome. " 12/01/2016 - "Berardinelli-Seip lipodystrophy is caused by autosomal recessive mutations in the BSCL2 gene that encodes an ER protein, seipin, that is also mutated in the autosomal dominant HSP SPG17 (Silver syndrome). "
2.	SilverIBA 07/01/1983 - "No previous association of congenital hypoplastic thumb and the Silver syndrome has been noted by Dr. Silver or described in the world literature. "
3.	Glycine-tRNA LigaseIBA 12/15/2007 - "Distal hereditary motor neuropathy type V (dHMN-V) and Charcot-Marie-Tooth syndrome (CMT) type 2 presenting with predominant hand involvement, also known as CMT2D and Silver syndrome (SS) are rare phenotypically overlapping diseases which can be caused by mutations in the Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2) and in the glycyl-tRNA synthetase encoding (GARS) genes. "

1.	Ligation 01/01/2021 - "Ten families with 6 AD-SPG: SPG6 (n=1), SPG8 (n=2), SPG9A (n=1), SPG12 (n=1), SPG17 (n=3), SPG31 (n=2) were studied using clinical, genealogical, molecular-genetic (massive parallel sequencing, spastic paraplegia panel, whole-exome sequencing, multiplex ligation-dependent amplification, Sanger sequencing) and bioinformatic methods. "