Literature DB >> 12874406

A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia.

P A Wilkinson1, A H Crosby, C Turner, H Patel, N W Wood, A H Schapira, T T Warner.   

Abstract

The authors performed a clinical and genetic study of a large consanguineous English family with uncomplicated autosomal recessive hereditary spastic paraplegia (ARHSP). Linkage to the previously described SPG5A locus was established with maximum multipoint lod score of 4.84. The locus was refined to a 23.6 cM interval between markers D8S1833 and D8S285. No evidence of oxidative phosphorylation defects was found in muscle biopsies from two affected individuals.

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Year:  2003        PMID： 12874406     DOI： 10.1212/01.wnl.0000069920.42968.8d

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


  11 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

6.  A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3.

Authors:  Sylvain Hanein; Alexandra Dürr; Pascale Ribai; Sylvie Forlani; Anne-Louise Leutenegger; Isabelle Nelson; Marie-Claude Babron; Nizar Elleuch; Christel Depienne; Céline Charon; Alexis Brice; Giovanni Stevanin
Journal:  Hum Genet       Date:  2007-06-28       Impact factor: 4.132

Review 7.  Importance of lipids for upper motor neuron health and disease.

Authors:  Aksu Gunay; Heather H Shin; Oge Gozutok; Mukesh Gautam; P Hande Ozdinler
Journal:  Semin Cell Dev Biol       Date:  2020-12-13       Impact factor: 7.727

8.  Ethnic differences in the prevalence of polymorphisms in CYP7A1, CYP7B1 AND CYP27A1 enzymes involved in cholesterol metabolism.

Authors:  Vera Dias; V Ribeiro
Journal:  J Pharm Bioallied Sci       Date:  2011-07

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

Authors:  M Muglia; 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
Journal:  Neurogenetics       Date:  2003-12-05       Impact factor: 2.660

10.  Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1.

Authors:  Roberto Di Fabio; Christian Marcotulli; Alessandra Tessa; Luca Leonardi; Eugenia Storti; Francesco Pierelli; Filippo M Santorelli; Carlo Casali
Journal:  J Neurol       Date:  2014-02-12       Impact factor: 4.849
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