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 4 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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A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia.
 

Author(s): Guo-hua Zhao, Zheng-mao Hu, Lu Shen, Hong Jiang, Zhi-jun Ren, Xiao-min Liu, Kun Xia, Peng Guo, Qian Pan, Bei-sha Tang

Journal: Chin. Med. J.. 2008 Mar;121(5):430-4.

 

Hereditary spastic paraplegia (HSP) is a group of inherited neurodegenerative disorders with the shared characteristics of slowly progressive spasticity and weakness of the lower limbs. Thirteen loci for autosomal dominant HSP have been mapped.

Last Updated: 26 Mar 2008

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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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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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