Spastic paraplegia 2

Common Name(s)

Spastic paraplegia 2

The hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of {7:Fink et al. (1996)} and {6:Fink (1997)}. Some forms of SPG are considered 'uncomplicated,' i.e., progressive spasticity occurs in isolation; others are considered 'complicated,' i.e., progressive spasticity occurs with other neurologic features. X-linked, autosomal dominant (see {182600}), and autosomal recessive (see {270800}) forms of SPG have been described. For discussion of genetic heterogeneity of X-linked SPG, see {303350}.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spastic paraplegia 2" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Spastic paraplegia 2" returned 3 free, full-text research articles on human participants. First 3 results:

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.
 

Author(s): Gladys Montenegro, Adriana P Rebelo, James Connell, Rachel Allison, Carla Babalini, Michela D'Aloia, Pasqua Montieri, Rebecca Schüle, Hiroyuki Ishiura, Justin Price, Alleene Strickland, Michael A Gonzalez, Lisa Baumbach-Reardon, Tine Deconinck, Jia Huang, Giorgio Bernardi, Jeffery M Vance, Mark T Rogers, Shoji Tsuji, Peter De Jonghe, Margaret A Pericak-Vance, Ludger Schöls, Antonio Orlacchio, Evan Reid, Stephan Züchner

Journal: J. Clin. Invest.. 2012 Feb;122(2):538-44.

 

Hereditary spastic paraplegias (HSPs) are a group of genetically heterogeneous neurodegenerative conditions. They are characterized by progressive spastic paralysis of the legs as a result of selective, length-dependent degeneration of the axons of the corticospinal tract. Mutations ...

Last Updated: 1 Feb 2012

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Hereditary spastic paraplegia linked to chromosome 14q11-q21: reduction of the SPG3 locus interval from 5.3 to 2.7 cM.
 

Author(s): S Rainier, P Hedera, D Alvarado, X Zhao, K A Kleopa, T Heiman-Patterson, J K Fink

Journal: J. Med. Genet.. 2001 Nov;38(11):E39.

 

Last Updated: 5 Nov 2001

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Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2.
 

Author(s): A Dürr, C S Davoine, C Paternotte, J von Fellenberg, S Cogilinicean, P Coutinho, C Lamy, S Bourgeois, J F Prud'homme, C Penet, J L Mas, J M Burgunder, J Hazan, J Weissenbach, A Brice, B Fontaine

Journal: Brain. 1996 Oct;119 ( Pt 5)():1487-96.

 

We report the clinical features of 12 families with autosomal dominant spastic paraplegia (ADSP) linked to the SPG4 locus on chromosome 2p, the major locus for this disorder that accounts for approximately 40% of the families. Among 93 gene carriers, 32 (34%) were unaware of symptoms ...

Last Updated: 6 Jan 1997

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Spastic paraplegia 2" returned 0 free, full-text review articles on human participants.

 
 
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