Literature DB >> 15326248

Infantile hereditary spastic paraparesis due to codominant mutations in the spastin gene.

P F Chinnery1, S M Keers, M J Holden, V Ramesh, A Dalton.   

Abstract

The authors describe an infant with a severe spastic paraparesis caused by two codominant mutations of the spastin gene. This highlights the multiple molecular mechanisms that are likely to be involved in the molecular pathology of SPG4 and illustrates the importance of complete screening of the spastin gene in affected individuals, particularly if the index case has an unusual phenotype.

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Year:  2004        PMID： 15326248     DOI： 10.1212/01.wnl.0000135346.63675.3e

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  11 in total

Review 1.  Recent advances in the genetics of spastic paraplegias.

Authors:  Giovanni Stevanin; Merle Ruberg; Alexis Brice
Journal:  Curr Neurol Neurosci Rep       Date:  2008-05       Impact factor: 5.081

2.  Loss of Drosophila melanogaster p21-activated kinase 3 suppresses defects in synapse structure and function caused by spastin mutations.

Authors:  Emily F Ozdowski; Sophia Gayle; Hong Bao; Bing Zhang; Nina T Sherwood
Journal:  Genetics       Date:  2011-07-29       Impact factor: 4.562

3.  Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases.

Authors:  C Depienne; C Tallaksen; J Y Lephay; B Bricka; S Poea-Guyon; B Fontaine; P Labauge; A Brice; A Durr
Journal:  J Med Genet       Date:  2005-07-31       Impact factor: 6.318

4.  Partial SPAST and DPY30 deletions in a Japanese spastic paraplegia type 4 family.

Authors:  Shiroh Miura; Hiroki Shibata; Hiroshi Kida; Kazuhito Noda; Takayuki Toyama; Naoka Iwasaki; Akiko Iwaki; Mitsuyoshi Ayabe; Hisamichi Aizawa; Takayuki Taniwaki; Yasuyuki Fukumaki
Journal:  Neurogenetics       Date:  2010-09-22       Impact factor: 2.660

Review 5.  Hereditary spastic paraplegia SPG4: what is known and not known about the disease.

Authors:  Joanna M Solowska; Peter W Baas
Journal:  Brain       Date:  2015-06-20       Impact factor: 13.501

6.  Functional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia.

Authors:  Fang Du; Emily F Ozdowski; Ingrid K Kotowski; Douglas A Marchuk; Nina Tang Sherwood
Journal:  Hum Mol Genet       Date:  2010-02-13       Impact factor: 6.150

7.  Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.

Authors:  Moneef Shoukier; Juergen Neesen; Simone M Sauter; Loukas Argyriou; Nadine Doerwald; D V Krishna Pantakani; Ashraf U Mannan
Journal:  Eur J Hum Genet       Date:  2008-08-13       Impact factor: 4.246

8.  Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.

Authors:  Victoria Alvarez; Elena Sánchez-Ferrero; Christian Beetz; Marta Díaz; Belén Alonso; Ana I Corao; Josep Gámez; Jesús Esteban; Juan F Gonzalo; Samuel I Pascual-Pascual; Adolfo López de Munain; Germán Moris; Renne Ribacoba; Celedonio Márquez; Jordi Rosell; Rosario Marín; Maria J García-Barcina; Emilia Del Castillo; Carmen Benito; Eliecer Coto
Journal:  BMC Neurol       Date:  2010-10-08       Impact factor: 2.474

9.  Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene.

Authors:  Bo Thomsen; Peter H Nissen; Jørgen S Agerholm; Christian Bendixen
Journal:  Neurogenetics       Date:  2009-08-28       Impact factor: 2.660

10.  A cryptic promoter in the first exon of the SPG4 gene directs the synthesis of the 60-kDa spastin isoform.

Authors:  Giuseppe Mancuso; Elena I Rugarli
Journal:  BMC Biol       Date:  2008-07-09       Impact factor: 7.431
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