Literature DB >> 14658060

Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.

M Muglia1, C Criscuolo, A Magariello, G De Michele, V Scarano, P D'Adamo, G Ambrosio, A L Gabriele, A Patitucci, R Mazzei, F L Conforti, T Sprovieri, L Morgante, A Epifanio, P La Spina, P Valentino, P Gasparini, A Filla, A Quattrone.   

Abstract

Hereditary spastic paraplegias are neurodegenerative disorders characterized clinically by progressive spasticity of the lower limbs. They are inherited as autosomal dominant, autosomal recessive, and X-linked traits. Four Italian families with autosomal recessive pure spastic paraplegia are reported. We show evidence of linkage to the SPG5 locus on chromosome 8p and our data reduce the candidate interval for SPG5 to the11-cM interval spanned by D8S285 and D8S544. We also report the search for mutations in five genes located in the region and their exclusion as candidates for SPG5.

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Year:  2003        PMID： 14658060     DOI： 10.1007/s10048-003-0167-7

Source DB:  PubMed          Journal:  Neurogenetics        ISSN： 1364-6745            Impact factor:   2.660


  25 in total

1.  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

2.  Classification of the hereditary ataxias and paraplegias.

Authors:  A E Harding
Journal:  Lancet       Date:  1983-05-21       Impact factor: 79.321

3.  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

4.  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

5.  Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q.

Authors:  P Hedera; S Rainier; D Alvarado; X Zhao; J Williamson; B Otterud; M Leppert; J K Fink
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

6.  SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.

Authors:  Heema Patel; Harold Cross; Christos Proukakis; Ruth Hershberger; Peer Bork; Francesca D Ciccarelli; Michael A Patton; Victor A McKusick; Andrew H Crosby
Journal:  Nat Genet       Date:  2002-07-22       Impact factor: 38.330

7.  Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q.

Authors:  J K Fink; C T Wu; S M Jones; G B Sharp; B M Lange; A Lesicki; T Reinglass; T Varvil; B Otterud; M Leppert
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

8.  Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34.

Authors:  Enza Maria Valente; Francesco Brancati; Viviana Caputo; Enrico Bertini; Clarice Patrono; Danilo Costanti; Bruno Dallapiccola
Journal:  Ann Neurol       Date:  2002-06       Impact factor: 10.422

9.  Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.

Authors:  G Casari; M De Fusco; S Ciarmatori; M Zeviani; M Mora; P Fernandez; G De Michele; A Filla; S Cocozza; R Marconi; A Dürr; B Fontaine; A Ballabio
Journal:  Cell       Date:  1998-06-12       Impact factor: 41.582

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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  5 in total

1.  Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.

Authors:  Rebecca Schüle; Elisabeth Brandt; Kathrin N Karle; Maria Tsaousidou; Stephan Klebe; Sven Klimpe; Michaela Auer-Grumbach; Andrew H Crosby; Christian A Hübner; Ludger Schöls; Thomas Deufel; Christian Beetz
Journal:  Neurogenetics       Date:  2008-10-15       Impact factor: 2.660

Review 2.  Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.

Authors:  John K Fink
Journal:  Acta Neuropathol       Date:  2013-07-30       Impact factor: 17.088

Review 3.  Hereditary spastic paraplegia.

Authors:  John K Fink
Journal:  Curr Neurol Neurosci Rep       Date:  2006-01       Impact factor: 5.081

4.  Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study.

Authors:  Chiara Criscuolo; Alessandro Filla; Giovanni Coppola; Carlo Rinaldi; Rosa Carbone; Stefano Pinto; Qing Wang; Maria Fulvia de Leva; Elena Salvatore; Sandro Banfi; Arturo Brunetti; Mario Quarantelli; Daniel H Geschwind; Sabina Pappatà; Giuseppe De Michele
Journal:  J Neurol       Date:  2009-04-12       Impact factor: 4.849

5.  Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.

Authors:  Maria K Tsaousidou; Karim Ouahchi; Tom T Warner; Yi Yang; Michael A Simpson; Nigel G Laing; Philip A Wilkinson; Ricardo E Madrid; Heema Patel; Faycal Hentati; Michael A Patton; Afif Hentati; Philippa J Lamont; Teepu Siddique; Andrew H Crosby
Journal:  Am J Hum Genet       Date:  2008-01-18       Impact factor: 11.025
  5 in total

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