Literature DB >> 20039086

Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19.

K G Meilleur1, M Traoré, M Sangaré, A Britton, G Landouré, S Coulibaly, B Niaré, F Mochel, A La Pean, I Rafferty, C Watts, D Shriner, M T Littleton-Kearney, C Blackstone, A Singleton, K H Fischbeck.   

Abstract

We identified a family in Mali with two sisters affected by spastic paraplegia. In addition to spasticity and weakness of the lower limbs, the patients had marked atrophy of the distal upper extremities. Homozygosity mapping using single nucleotide polymorphism arrays showed that the sisters shared a region of extended homozygosity at chromosome 19p13.11-q12 that was not shared by controls. These findings indicate a clinically and genetically distinct form of hereditary spastic paraplegia with amyotrophy, designated SPG43.

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Year:  2009        PMID： 20039086      PMCID： PMC2891134          DOI： 10.1007/s10048-009-0230-0

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


  18 in total

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Review 10.  Application of genome-wide single nucleotide polymorphism typing: simple association and beyond.

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  8 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.  A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.

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Journal:  Neurogenetics       Date:  2012-05-03       Impact factor: 2.660

3.  Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.

Authors:  Guida Landouré; Peng-Peng Zhu; Charles M Lourenço; Janel O Johnson; Camilo Toro; Katherine V Bricceno; Carlo Rinaldi; Katherine G Meilleur; Modibo Sangaré; Oumarou Diallo; Tyler M Pierson; Hiroyuki Ishiura; Shoji Tsuji; Nichole Hein; John K Fink; Marion Stoll; Garth Nicholson; Michael A Gonzalez; Fiorella Speziani; Alexandra Dürr; Giovanni Stevanin; Leslie G Biesecker; John Accardi; Dennis M D Landis; William A Gahl; Bryan J Traynor; Wilson Marques; Stephan Züchner; Craig Blackstone; Kenneth H Fischbeck; Barrington G Burnett
Journal:  Hum Mutat       Date:  2013-08-12       Impact factor: 4.878

4.  SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review.

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  8 in total

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