Literature DB >> 10631629

The hereditary spastic paraplegias.

E Reid1.   

Abstract

The hereditary spastic paraplegias are a complex group of neurodegenerative conditions which are characterised by slowly progressive lower limb spasticity. This article describes the main clinical features of pure and complicated hereditary spastic paraplegias and summarises recent advances in our understanding of the molecular genetics of these conditions.

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Mesh：

Year:  1999        PMID： 10631629     DOI： 10.1007/s004150050503

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


  19 in total

1.  The prevalence of "pure" autosomal dominant hereditary spastic paraparesis in the island of Ireland.

Authors:  P McMonagle; S Webb; M Hutchinson
Journal:  J Neurol Neurosurg Psychiatry       Date:  2002-01       Impact factor: 10.154

2.  A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.

Authors:  G Vazza; M Zortea; F Boaretto; G F Micaglio; V Sartori; M L Mostacciuolo
Journal:  Am J Hum Genet       Date:  2000-06-30       Impact factor: 11.025

3.  Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.

Authors:  Stephan Züchner; Gaofeng Wang; Khanh-Nhat Tran-Viet; Martha A Nance; Perry C Gaskell; Jeffery M Vance; Allison E Ashley-Koch; Margaret A Pericak-Vance
Journal:  Am J Hum Genet       Date:  2006-05-26       Impact factor: 11.025

Review 4.  Hereditary spastic paraplegias: membrane traffic and the motor pathway.

Authors:  Craig Blackstone; Cahir J O'Kane; Evan Reid
Journal:  Nat Rev Neurosci       Date:  2011-01       Impact factor: 34.870

5.  A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13.

Authors:  E Reid; A M Dearlove; O Osborn; M T Rogers; D C Rubinsztein
Journal:  Am J Hum Genet       Date:  2000-02       Impact factor: 11.025

6.  Hereditary spastic paraplegia with thin corpus callosum.

Authors:  Sujeet Raina; Jitender K Mokta; Sanjiv Sharma
Journal:  Ann Indian Acad Neurol       Date:  2009-01       Impact factor: 1.383

7.  Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes.

Authors:  Christian Windpassinger; Klaus Wagner; Erwin Petek; Renate Fischer; Michaela Auer-Grumbach
Journal:  Hum Genet       Date:  2003-09-16       Impact factor: 4.132

8.  A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).

Authors:  Evan Reid; Mark Kloos; Allison Ashley-Koch; Lori Hughes; Simon Bevan; Ingrid K Svenson; Felicia Lennon Graham; Perry C Gaskell; Andrew Dearlove; Margaret A Pericak-Vance; David C Rubinsztein; Douglas A Marchuk
Journal:  Am J Hum Genet       Date:  2002-09-24       Impact factor: 11.025

Review 9.  Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias.

Authors:  E Reid
Journal:  J Med Genet       Date:  2003-02       Impact factor: 6.318

10.  Spastin couples microtubule severing to membrane traffic in completion of cytokinesis and secretion.

Authors:  James W Connell; Catherine Lindon; J Paul Luzio; Evan Reid
Journal:  Traffic       Date:  2008-10-29       Impact factor: 6.215
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