Spastic paraplegia 3

Common Name(s)

Spastic paraplegia 3, Strumpell Disease

The hereditary spastic paraplegias are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of {14:Fink et al. (1996)} and {13:Fink (1997)}. SPG is classified according to both the mode of inheritance (autosomal dominant, autosomal recessive (see {270800}), and X-linked (see {303350})) and whether progressive spasticity occurs in isolation ('uncomplicated SPG') or with other neurologic abnormalities ('complicated SPG'), including optic neuropathy, retinopathy, extrapyramidal disturbance, dementia, ataxia, ichthyosis, mental retardation, and deafness. The major neuropathologic feature of autosomal dominant, uncomplicated SPG is axonal degeneration that is maximal in the terminal portions of the longest descending and ascending tracts (crossed and uncrossed corticospinal tracts to the legs and fasciculus gracilis, respectively). Spinocerebellar fibers are involved to a lesser extent. Since the description of 'pure' hereditary spastic paraparesis of late onset by {42:Strumpell (1904)}, many 'complicated' forms of the disorder have been reported and the question as to whether a 'pure' form exists has been raised off and on. Probably in large part because of their exceptional length, the pyramidal tracts are unusually vulnerable to both acquired and genetic derangement. Although a majority of reported families have displayed recessive inheritance, 10 to 30% of families have a dominant pattern and in fact recessive inheritance of a 'pure' spastic paraplegia may be rare. Genetic Heterogeneity of Autosomal Dominant Spastic Paraplegia In addition to SPG3A, which is caused by mutation in the ALT1 gene on chromosome 14q22, other forms of autosomal dominant spastic paraplegia for which the molecular basis is known include SPG4 ({182601}), caused by mutation in the SPAST gene ({604277}) on 2p22-p21; SPG6 ({600363}), caused by mutation in the NIPA1 gene ({608145}) on 15q11.1; SPG8 ({603563}), caused by mutation in the KIAA0196 gene ({610657}) on 8q24; SPG10 ({604187}), caused by mutation in the KIF5A gene ({602821}) on 12q13; SPG12 ({604805}), caused by mutation in the RTN2 gene ({603183}) on 19q13; SPG13 ({605280}), caused by mutation in the SSPD1 gene ({118190}) on 2q33.1; SPG31 ({610250}), caused by mutation in the REEP1 gene ({609139}) on 2p11.2; SPG33 ({610244}), caused by mutation in the ZFYVE27 gene ({610243}) on 10q24.2; and SPG72 ({615625}), caused by mutation in the REEP2 gene ({609347}) on chromosome 5q31. Autosomal dominant spastic paraplegia has been mapped to chromosomes 10q (SPG9; {601162}), 9q (SPG19; {607152}), 1p31-p21 (SPG29; {609727}), 12q23-q24 (SPG36; {613096}), 8p21.1-q13.3 (SPG37; {611945}), 4p16-p15 (SPG38; {612335}), and 11p14.1-p11.2 (SPG41; {613364}).
 

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

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.
 

Author(s): Stephan Klebe, Hamid Azzedine, Alexandra Durr, Patrick Bastien, Naima Bouslam, Nizar Elleuch, Sylvie Forlani, Celine Charon, Michel Koenig, Judith Melki, Alexis Brice, Giovanni Stevanin

Journal: Brain. 2006 Jun;129(Pt 6):1456-62.

 

The hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by progressive spasticity in the lower limbs. Twenty-nine different loci (SPG) have been mapped so far, and 11 responsible genes have been identified. ...

Last Updated: 1 Jun 2006

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Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1.
 

Author(s): M Zortea, A Vettori, C P Trevisan, S Bellini, G Vazza, M Armani, A Simonati, M L Mostacciuolo

Journal: J. Med. Genet.. 2002 Jun;39(6):387-90.

 

It has been suggested that a genetic factor(s) or a familial predisposition may contribute to the clinical manifestations of disc herniation; moreover, no genetic linkage between spinal disc herniation and spastic paraplegia has ever been described. A family with consanguineous parents ...

Last Updated: 18 Jun 2002

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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 3" returned 0 free, full-text review articles on human participants.

 
 
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