Spastic paraplegia 4

Common Name(s)

Spastic paraplegia 4, Spastic paraplegia 4, autosomal dominant

The hereditary spastic paraplegias (SPG, HSP) are a group of clinically and genetically diverse inherited disorders characterized predominantly by progressive lower extremity spasticity and weakness. SPG is classified by mode of inheritance (autosomal dominant, autosomal recessive, and X-linked) and whether the primary symptoms occur in isolation ('uncomplicated') or with other neurologic abnormalities ('complicated'). Pure SPG4 is the most common form of autosomal dominant hereditary SPG, comprising up to 45% of cases ({36:Svenson et al., 2001}; {6:Crippa et al., 2006}). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A ({182600}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spastic paraplegia 4" 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 4" returned 2 free, full-text research articles on human participants. First 3 results:

Novel SPAST deletion and reduced DPY30 expression in a Spastic Paraplegia type 4 kindred.
 

Author(s): Loretta Racis, Eugenia Storti, Maura Pugliatti, Virgilio Agnetti, Alessandra Tessa, Filippo M Santorelli

Journal:

 

The hereditary spastic paraplegias (HSPs) are pleiomorphic disorders of motor pathway and a large number of affected genes have been discovered. Yet, mutations in SPG4/SPAST represent the most frequent molecular etiology in autosomal dominant (AD) patients and sporadic cases. We describe ...

Last Updated: 8 Apr 2014

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Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature.
 

Author(s): Rami Abou Jamra, Orianne Philippe, Annick Raas-Rothschild, Sebastian H Eck, Elisabeth Graf, Rebecca Buchert, Guntram Borck, Arif Ekici, Felix F Brockschmidt, Markus M Nöthen, Arnold Munnich, Tim M Strom, Andre Reis, Laurence Colleaux

Journal: Am. J. Hum. Genet.. 2011 Jun;88(6):788-95.

 

Intellectual disability inherited in an autosomal-recessive fashion represents an important fraction of severe cognitive-dysfunction disorders. Yet, the extreme heterogeneity of these conditions markedly hampers gene identification. Here, we report on eight affected individuals who ...

Last Updated: 13 Jun 2011

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Reviews from the PubMed Database

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The terms "Spastic paraplegia 4" returned 0 free, full-text review articles on human participants.

 
 
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