Literature DB >> 15455396

A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1.

Inge A Meijer1, Patrick Cossette, Julie Roussel, Melanie Benard, Sylvie Toupin, Guy A Rouleau.   

Abstract

The hereditary spastic paraplegias (HSPs) are a group of clinically and genetically heterogeneous disorders characterized by progressive lower-limb spasticity. In this study, we performed linkage analysis on an autosomal recessive pure HSP family and mapped the disease to chromosome 10q22.1-10q24.1, a locus partially overlapping the existing SPG9 locus. We have either identified a novel locus for pure recessive HSP (SPG27), or we have found the first case of allelic disorders with different mode of inheritance in HSP. If the disorders are indeed allelic, our results have reduced the SPG9 interval by 3Mb with D10S536 and D10S1758 as flanking markers.

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Year:  2004        PMID: 15455396     DOI: 10.1002/ana.20239

Source DB:  PubMed          Journal:  Ann Neurol        ISSN: 0364-5134            Impact factor:   10.422


  13 in total

Review 1.  Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.

Authors:  Paulo Victor Sgobbi de Souza; Wladimir Bocca Vieira de Rezende Pinto; Gabriel Novaes de Rezende Batistella; Thiago Bortholin; Acary Souza Bulle Oliveira
Journal:  Cerebellum       Date:  2017-04       Impact factor: 3.847

2.  ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia.

Authors:  Ashraf U Mannan; Philip Krawen; Simone M Sauter; Johann Boehm; Agnieszka Chronowska; Walter Paulus; Juergen Neesen; Wolfgang Engel
Journal:  Am J Hum Genet       Date:  2006-06-01       Impact factor: 11.025

3.  Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

Authors:  Gaia Novarino; Ali G Fenstermaker; Maha S Zaki; Matan Hofree; Jennifer L Silhavy; Andrew D Heiberg; Mostafa Abdellateef; Basak Rosti; Eric Scott; Lobna Mansour; Amira Masri; Hulya Kayserili; Jumana Y Al-Aama; Ghada M H Abdel-Salam; Ariana Karminejad; Majdi Kara; Bulent Kara; Bita Bozorgmehri; Tawfeg Ben-Omran; Faezeh Mojahedi; Iman Gamal El Din Mahmoud; Naima Bouslam; Ahmed Bouhouche; Ali Benomar; Sylvain Hanein; Laure Raymond; Sylvie Forlani; Massimo Mascaro; Laila Selim; Nabil Shehata; Nasir Al-Allawi; P S Bindu; Matloob Azam; Murat Gunel; Ahmet Caglayan; Kaya Bilguvar; Aslihan Tolun; Mahmoud Y Issa; Jana Schroth; Emily G Spencer; Rasim O Rosti; Naiara Akizu; Keith K Vaux; Anide Johansen; Alice A Koh; Hisham Megahed; Alexandra Durr; Alexis Brice; Giovanni Stevanin; Stacy B Gabriel; Trey Ideker; Joseph G Gleeson
Journal:  Science       Date:  2014-01-31       Impact factor: 47.728

4.  Sacsinopathies: sacsin-related ataxia.

Authors:  Yoshihisa Takiyama
Journal:  Cerebellum       Date:  2007-02-28       Impact factor: 3.847

Review 5.  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

6.  A new phenotype linked to SPG27 and refinement of the critical region on chromosome.

Authors:  Pascale Ribai; Giovanni Stevanin; Naima Bouslam; Bénédicte Pontier; Isabelle Nelson; Bertrand Fontaine; Christel Dussert; Céline Charon; Alexandra Durr; Alexis Brice
Journal:  J Neurol       Date:  2006-03-06       Impact factor: 4.849

Review 7.  Hereditary spastic paraplegia.

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

Review 8.  Thermosensory and mechanosensory perception in human genetic disease.

Authors:  Perciliz L Tan; Nicholas Katsanis
Journal:  Hum Mol Genet       Date:  2009-10-15       Impact factor: 6.150

9.  Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3-q25.1.

Authors:  Umut Dursun; Cigdem Koroglu; Elif Kocasoy Orhan; Sibel Aylin Ugur; Aslihan Tolun
Journal:  Neurogenetics       Date:  2009-05-05       Impact factor: 2.660

10.  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

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