Spastic paraplegia 1

Common Name(s)

Spastic paraplegia 1

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 {5:Fink et al. (1996)} and {4: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. Spastic paraplegia-1 is usually called MASA syndrome, the designation originally suggested by {1:Bianchine and Lewis (1974)}, because the main clinical features are summarized by the acronym MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs). The shuffling gait is probably caused by spasticity of the lower limbs, and all affected males have been reported to have increased reflexes. The adducted thumbs are thought to be caused by hypoplastic or absent extensor pollicis longus or brevis muscles. In affected males, the onset of speech is delayed ({23:Winter et al., 1989}). See {314100} for isolated X-linked congenital clasped thumb and {201550} for an autosomal adducted thumbs syndrome. Genetic Heterogeneity of X-linked Spastic Paraplegia Other forms of X-linked spastic paraplegia included SPG2 ({312920}), which is caused by mutation in the myelin proteolipid protein gene (PLP1; {300401}); SPG16 ({300266}), which maps to Xq11.2-q23; and SPG34 ({300750}), which maps to Xq24-q25.
 

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Condition Specific Organizations

Following organizations serve the condition "Spastic paraplegia 1" 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 1" returned 11 free, full-text research articles on human participants. First 3 results:

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.
 

Author(s): Janneke H M Schuurs-Hoeijmakers, Michael T Geraghty, Erik-Jan Kamsteeg, Salma Ben-Salem, Susanne T de Bot, Bonnie Nijhof, Ilse I G M van de Vondervoort, Marinette van der Graaf, Anna Castells Nobau, Irene Otte-Höller, Sascha Vermeer, Amanda C Smith, Peter Humphreys, Jeremy Schwartzentruber, , Bassam R Ali, Saeed A Al-Yahyaee, Said Tariq, Thachillath Pramathan, Riad Bayoumi, Hubertus P H Kremer, Bart P van de Warrenburg, Willem M R van den Akker, Christian Gilissen, Joris A Veltman, Irene M Janssen, Anneke T Vulto-van Silfhout, Saskia van der Velde-Visser, Dirk J Lefeber, Adinda Diekstra, Corrie E Erasmus, Michèl A Willemsen, Lisenka E L M Vissers, Martin Lammens, Hans van Bokhoven, Han G Brunner, Ron A Wevers, Annette Schenck, Lihadh Al-Gazali, Bert B A de Vries, Arjan P M de Brouwer

Journal: Am. J. Hum. Genet.. 2012 Dec;91(6):1073-81.

 

We report on four families affected by a clinical presentation of complex hereditary spastic paraplegia (HSP) due to recessive mutations in DDHD2, encoding one of the three mammalian intracellular phospholipases A(1) (iPLA(1)). The core phenotype of this HSP syndrome consists of very ...

Last Updated: 10 Dec 2012

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Hereditary spastic paraplegia-causing mutations in atlastin-1 interfere with BMPRII trafficking.
 

Author(s): Jiali Zhao, Peter Hedera

Journal: Mol. Cell. Neurosci.. 2013 Jan;52():87-96.

 

Disruption of the bone morphogenic protein (BMP)-linked signaling pathway has been suggested as an important factor in the development of hereditary spastic paraplegia (HSP). HSP-causing proteins spastin, spartin and NIPA1 were reported to inhibit the BMP pathway. We have previously ...

Last Updated: 8 Jan 2013

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Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network.
 

Author(s): Seong H Park, Peng-Peng Zhu, Rell L Parker, Craig Blackstone

Journal: J. Clin. Invest.. 2010 Apr;120(4):1097-110.

 

Hereditary spastic paraplegias (HSPs; SPG1-45) are inherited neurological disorders characterized by lower extremity spastic weakness. More than half of HSP cases result from autosomal dominant mutations in atlastin-1 (also known as SPG3A), receptor expression enhancing protein 1 ...

Last Updated: 7 Apr 2010

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Reviews from the PubMed Database

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The terms "Spastic paraplegia 1" returned 0 free, full-text review articles on human participants.

 
 
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