Literature DB >> 15786464

Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28).

Naima Bouslam1, Ali Benomar, Hamid Azzedine, Ahmed Bouhouche, Michito Namekawa, Stephan Klebe, Céline Charon, Alexandra Durr, Merle Ruberg, Alexis Brice, Mohamed Yahyaoui, Giovanni Stevanin.   

Abstract

Pure hereditary spastic paraplegias are characterized by isolated and progressive spasticity in the lower limbs. We mapped the spastic paraplegia 28 (SPG28) locus to chromosome 14q21.3-q22.3 in a Moroccan family with autosomal recessive hereditary spastic paraplegia. Affected patients experienced development of progressive spastic gait during childhood and required help walking in their early 40s. Nine additional hereditary spastic paraplegia families were not linked to this locus, demonstrating further genetic heterogeneity. No mutations were found in exons of GCH1 and SPG3A, two genes from the candidate region involved in movement disorders.

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Year:  2005        PMID: 15786464     DOI: 10.1002/ana.20416

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


  21 in total

1.  A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene.

Authors:  Michito Namekawa; Isabelle Nelson; Pascale Ribai; Alexandra Dürr; Elodie Denis; Giovanni Stevanin; Merle Ruberg; Alexis Brice
Journal:  Neurogenetics       Date:  2006-04-13       Impact factor: 2.660

Review 2.  Recent advances in the genetics of spastic paraplegias.

Authors:  Giovanni Stevanin; Merle Ruberg; Alexis Brice
Journal:  Curr Neurol Neurosci Rep       Date:  2008-05       Impact factor: 5.081

3.  Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations.

Authors:  Rocco Liguori; Maria Pia Giannoccaro; Alessia Arnoldi; Andrea Citterio; Caterina Tonon; Raffaele Lodi; Nereo Bresolin; Maria Teresa Bassi
Journal:  J Neurol       Date:  2014-07-03       Impact factor: 4.849

Review 4.  Lipid-metabolizing serine hydrolases in the mammalian central nervous system: endocannabinoids and beyond.

Authors:  Myungsun Shin; Timothy B Ware; Hyeon-Cheol Lee; Ku-Lung Hsu
Journal:  Biochim Biophys Acta Mol Cell Biol Lipids       Date:  2018-08-16       Impact factor: 4.698

Review 5.  The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.

Authors:  Àngels Garcia-Cazorla; Fanny Mochel; Foudil Lamari; Jean-Marie Saudubray
Journal:  J Inherit Metab Dis       Date:  2014-11-21       Impact factor: 4.982

Review 6.  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

7.  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 8.  Hereditary spastic paraplegia.

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

9.  Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.

Authors:  Christelle Tesson; Magdalena Nawara; Mustafa A M Salih; Rodrigue Rossignol; Maha S Zaki; Mohammed Al Balwi; Rebecca Schule; Cyril Mignot; Emilie Obre; Ahmed Bouhouche; Filippo M Santorelli; Christelle M Durand; Andrés Caballero Oteyza; Khalid H El-Hachimi; Abdulmajeed Al Drees; Naima Bouslam; Foudil Lamari; Salah A Elmalik; Mohammad M Kabiraj; Mohammed Z Seidahmed; Typhaine Esteves; Marion Gaussen; Marie-Lorraine Monin; Gabor Gyapay; Doris Lechner; Michael Gonzalez; Christel Depienne; Fanny Mochel; Julie Lavie; Ludger Schols; Didier Lacombe; Mohamed Yahyaoui; Ibrahim Al Abdulkareem; Stephan Zuchner; Atsushi Yamashita; Ali Benomar; Cyril Goizet; Alexandra Durr; Joseph G Gleeson; Frederic Darios; Alexis Brice; Giovanni Stevanin
Journal:  Am J Hum Genet       Date:  2012-11-21       Impact factor: 11.025

10.  The Spastic Paraplegia-Associated Phospholipase DDHD1 Is a Primary Brain Phosphatidylinositol Lipase.

Authors:  Jordon M Inloes; Hui Jing; Benjamin F Cravatt
Journal:  Biochemistry       Date:  2018-09-17       Impact factor: 3.162

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