Spastic paraplegia 7

Common Name(s)

Spastic paraplegia 7

Hereditary spastic paraplegia (SPG) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. There is considerable genetic heterogeneity. Inheritance is most often autosomal dominant (see {182600}), but X-linked (see {312920}) and autosomal recessive (see {270800}) forms occur. SPG7 shows phenotypic variability between families. Some cases are pure, whereas other are complicated with additional neurologic features ({7:Warnecke et al., 2007}).
 

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Condition Specific Organizations

Following organizations serve the condition "Spastic paraplegia 7" for support, advocacy or research.

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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 7" returned 4 free, full-text research articles on human participants. First 3 results:

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
 

Author(s): Stephan Klebe, Christel Depienne, Sylvie Gerber, Georges Challe, Mathieu Anheim, Perrine Charles, Estelle Fedirko, Elodie Lejeune, Julien Cottineau, Alfredo Brusco, Hélène Dollfus, Patrick F Chinnery, Cecilia Mancini, Xavier Ferrer, Guilhem Sole, Alain Destée, Jean-Michel Mayer, Bertrand Fontaine, Jérôme de Seze, Michel Clanet, Elisabeth Ollagnon, Philippe Busson, Cécile Cazeneuve, Giovanni Stevanin, Josseline Kaplan, Jean-Michel Rozet, Alexis Brice, Alexandra Durr

Journal: Brain. 2012 Oct;135(Pt 10):2980-93.

 

Mutations in the spastic paraplegia 7 (SPG7) gene encoding paraplegin are responsible for autosomal recessive hereditary spasticity. We screened 135 unrelated index cases, selected in five different settings: SPG7-positive patients detected during SPG31 analysis using SPG31/SPG7 multiplex ...

Last Updated: 15 Oct 2012

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Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.
 

Author(s): Koen L I van Gassen, Charlotte D C C van der Heijden, Susanne T de Bot, Wilfred F A den Dunnen, Leonard H van den Berg, Corien C Verschuuren-Bemelmans, H P H Kremer, Jan H Veldink, Erik-Jan Kamsteeg, Hans Scheffer, Bart P van de Warrenburg

Journal: Brain. 2012 Oct;135(Pt 10):2994-3004.

 

Spastic paraplegia type 7 is an autosomal recessive neurodegenerative disorder mainly characterized by progressive bilateral lower limb spasticity and referred to as a form of hereditary spastic paraplegia. Additional disease features may also be observed as part of a more complex ...

Last Updated: 15 Oct 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

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The terms "Spastic paraplegia 7" returned 0 free, full-text review articles on human participants.

 
 
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