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:

Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2.
 

Author(s): Nyamkhishig Sambuughin, Lev G Goldfarb, Tatiana M Sivtseva, Tatiana K Davydova, Vsevolod A Vladimirtsev, Vladimir L Osakovskiy, Al'bina P Danilova, Raisa S Nikitina, Anastasia N Ylakhova, Margarita P Diachkovskaya, Anna C Sundborger, Neil M Renwick, Fyodor A Platonov, Jenny E Hinshaw, Camilo Toro

Journal:

 

Hereditary Spastic Paraplegia (HSP) represents a large group of clinically and genetically heterogeneous disorders linked to over 70 different loci and more than 60 recognized disease-causing genes. A heightened vulnerability to disruption of various cellular processes inherent to ...

Last Updated: 31 Oct 2015

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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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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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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

The Effects of Passive Gait Training in Complete Motor Spinal Cord Injury (SCI)
 

Status: Not yet recruiting

Condition Summary: Motor Complete Spinal Cord Injury

 

Last Updated: 5 May 2011

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