Literature DB >> 12566514

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

E Reid1.   

Abstract

The hereditary spastic paraplegias are a group of neurodegenerative conditions that all share the principal clinical feature of progressive lower limb spastic paralysis, caused by either failure of development or progressive degeneration of the corticospinal tract. The conditions are characterised by extreme genetic heterogeneity, with at least 20 genes involved. Until recently, no functional overlap was apparent in the associated molecular pathological mechanisms. However, with recent progress in hereditary spastic paraplegia gene identification, common pathological themes are now emerging.

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Year:  2003        PMID： 12566514      PMCID： PMC1735361          DOI： 10.1136/jmg.40.2.81

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  67 in total

1.  A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.

Authors:  B Fontaine; C S Davoine; A Dürr; C Paternotte; I Feki; J Weissenbach; J Hazan; A Brice
Journal:  Am J Hum Genet       Date:  2000-02       Impact factor: 11.025

Review 2.  The hereditary spastic paraplegias.

Authors:  E Reid
Journal:  J Neurol       Date:  1999-11       Impact factor: 4.849

3.  Chaperone-like activity of the AAA domain of the yeast Yme1 AAA protease.

Authors:  K Leonhard; A Stiegler; W Neupert; T Langer
Journal:  Nature       Date:  1999-03-25       Impact factor: 49.962

4.  Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.

Authors:  J Hazan; N Fonknechten; D Mavel; C Paternotte; D Samson; F Artiguenave; C S Davoine; C Cruaud; A Dürr; P Wincker; P Brottier; L Cattolico; V Barbe; J M Burgunder; J F Prud'homme; A Brice; B Fontaine; B Heilig; J Weissenbach
Journal:  Nat Genet       Date:  1999-11       Impact factor: 38.330

5.  A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity.

Authors:  E Reid; A M Dearlove; M Rhodes; D C Rubinsztein
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

6.  Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity.

Authors:  E Reid; A M Dearlove; M L Whiteford; M Rhodes; D C Rubinsztein
Journal:  Neurology       Date:  1999-11-10       Impact factor: 9.910

7.  Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15.

Authors:  F Martínez Murillo; H Kobayashi; E Pegoraro; G Galluzzi; G Creel; C Mariani; E Farina; E Ricci; G Alfonso; R M Pauli; E P Hoffman
Journal:  Neurology       Date:  1999-07-13       Impact factor: 9.910

8.  Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on Brain Dysmyelinating Disease.

Authors:  C Mimault; G Giraud; V Courtois; F Cailloux; J Y Boire; B Dastugue; O Boespflug-Tanguy
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025

9.  Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members.

Authors:  K Sivakumar; N Sambuughin; B Selenge; J W Nagle; D Baasanjav; L D Hudson; L G Goldfarb
Journal:  Ann Neurol       Date:  1999-05       Impact factor: 10.422

10.  Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy.

Authors:  M Seri; R Cusano; P Forabosco; R Cinti; F Caroli; P Picco; R Bini; V B Morra; G De Michele; M Lerone; M Silengo; I Pela; C Borrone; G Romeo; M Devoto
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025
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  54 in total

Review 1.  All neuropathies great and small.

Authors:  Ellen B Penny; Brian D McCabe
Journal:  J Clin Invest       Date:  2005-11       Impact factor: 14.808

2.  Quantification of the synaptosomal proteome of the rat cerebellum during post-natal development.

Authors:  Daniel B McClatchy; Lujian Liao; Sung Kyu Park; John D Venable; John R Yates
Journal:  Genome Res       Date:  2007-08-03       Impact factor: 9.043

3.  Drosophila spichthyin inhibits BMP signaling and regulates synaptic growth and axonal microtubules.

Authors:  Xinnan Wang; W Robert Shaw; Hilda T H Tsang; Evan Reid; Cahir J O'Kane
Journal:  Nat Neurosci       Date:  2007-01-14       Impact factor: 24.884

4.  Bhlhb5 regulates the postmitotic acquisition of area identities in layers II-V of the developing neocortex.

Authors:  Pushkar S Joshi; Bradley J Molyneaux; Liang Feng; Xiaoling Xie; Jeffrey D Macklis; Lin Gan
Journal:  Neuron       Date:  2008-10-23       Impact factor: 17.173

5.  Microstructural integrity of cerebral fiber tracts in hereditary spastic paraparesis with SPG11 mutation.

Authors:  M-K Pan; S-C Huang; Y-C Lo; Chih-Chao Yang; T-W Cheng; Chi-Cheng Yang; M-S Hua; M-J Lee; W-Y I Tseng
Journal:  AJNR Am J Neuroradiol       Date:  2012-12-06       Impact factor: 3.825

6.  Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.

Authors:  Ingrid K Svenson; Mark T Kloos; P Craig Gaskell; Martha A Nance; James Y Garbern; Shin-ichi Hisanaga; Margaret A Pericak-Vance; Allison E Ashley-Koch; Douglas A Marchuk
Journal:  Neurogenetics       Date:  2004-07-10       Impact factor: 2.660

7.  Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1.

Authors:  Michael C Hanna; Craig Blackstone
Journal:  Neurogenetics       Date:  2009-01-31       Impact factor: 2.660

8.  Multi-system neurological disease is common in patients with OPA1 mutations.

Authors:  P Yu-Wai-Man; P G Griffiths; G S Gorman; C M Lourenco; A F Wright; M Auer-Grumbach; A Toscano; O Musumeci; M L Valentino; L Caporali; C Lamperti; C M Tallaksen; P Duffey; J Miller; R G Whittaker; M R Baker; M J Jackson; M P Clarke; B Dhillon; B Czermin; J D Stewart; G Hudson; P Reynier; D Bonneau; W Marques; G Lenaers; R McFarland; R W Taylor; D M Turnbull; M Votruba; M Zeviani; V Carelli; L A Bindoff; R Horvath; P Amati-Bonneau; P F Chinnery
Journal:  Brain       Date:  2010-02-15       Impact factor: 13.501

9.  The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling.

Authors:  Hilda T H Tsang; Thomas L Edwards; Xinnan Wang; James W Connell; Rachel J Davies; Hannah J Durrington; Cahir J O'Kane; J Paul Luzio; Evan Reid
Journal:  Hum Mol Genet       Date:  2009-07-20       Impact factor: 6.150

10.  Endogenous spartin (SPG20) is recruited to endosomes and lipid droplets and interacts with the ubiquitin E3 ligases AIP4 and AIP5.

Authors:  Thomas L Edwards; Virginia E Clowes; Hilda T H Tsang; James W Connell; Christopher M Sanderson; J Paul Luzio; Evan Reid
Journal:  Biochem J       Date:  2009-09-14       Impact factor: 3.857
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