Literature DB >> 16606928

Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon.

Y Ouyang1, Y Takiyama, K Sakoe, H Shimazaki, T Ogawa, S Nagano, Y Yamamoto, I Nakano.   

Abstract

The authors describe a Japanese autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) patient with a compound heterozygous mutation (32627-32636delACACTGTTAC and 31760delT) in a new exon of the SACS gene. The new exons upstream of the gigantic one should be analyzed when a case is clinically compatible with ARSACS, even without any mutation in the gigantic exon.

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Year:  2006        PMID： 16606928     DOI： 10.1212/01.wnl.0000204300.94261.ea

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


  16 in total

1.  New findings in the ataxia of Charlevoix-Saguenay.

Authors:  José Gazulla; Isabel Benavente; Ana Carmen Vela; Miguel Angel Marín; Luis Emilio Pablo; Alessandra Tessa; María Rosario Barrena; Filippo Maria Santorelli; Claudia Nesti; Pedro Modrego; María Tintoré; José Berciano
Journal:  J Neurol       Date:  2011-10-13       Impact factor: 4.849

2.  Computational analysis of a novel SACS gene mutation with BioExtract server.

Authors:  Yosr Bouhlal; Douglas M Jennewein; Brent Anderson; Joe Reynoldson; Wiem Maamouri; Fayçal Hentati; Rim Amouri; Carol Lushbough
Journal:  J Mol Neurosci       Date:  2011-03-17       Impact factor: 3.444

Review 3.  A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases.

Authors:  Georgia Xiromerisiou; Katerina Dadouli; Chrysoula Marogianni; Antonios Provatas; Panagiotis Ntellas; Dimitrios Rikos; Pantelis Stathis; Despina Georgouli; Gedeon Loules; Maria Zamanakou; Georgios M Hadjigeorgiou
Journal:  J Mol Neurosci       Date:  2019-11-07       Impact factor: 3.444

4.  Sacsin-related spastic ataxia caused by a novel missense mutation p.Arg272His in a patient from Sicily, southern Italy.

Authors:  Valeria Dibilio; Francesca Cavalcanti; Alessandra Nicoletti; Giovanni Mostile; Elisa Bruno; Grazia Annesi; Patrizia Tarantino; Monica Gagliardi; Antonio Gambardella; Aldo Quattrone; Mario Zappia
Journal:  Cerebellum       Date:  2013-08       Impact factor: 3.847

5.  Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS.

Authors:  Visou Ady; Brenda Toscano-Márquez; Moushumi Nath; Philip K Chang; Jeanette Hui; Anna Cook; François Charron; Roxanne Larivière; Bernard Brais; R Anne McKinney; Alanna J Watt
Journal:  J Physiol       Date:  2018-07-19       Impact factor: 5.182

6.  Thickening of peripapillar retinal fibers for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Authors:  Jeremy Desserre; David Devos; Bruno Georges Sautière; Philippe Debruyne; Filippo M Santorelli; Isabelle Vuillaume; Sabine Defoort-Dhellemmes
Journal:  Cerebellum       Date:  2011-12       Impact factor: 3.847

7.  Sacsinopathies: sacsin-related ataxia.

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

8.  Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): novel compound heterozygous mutations in the SACS gene.

Authors:  S Kamada; S Okawa; T Imota; M Sugawara; I Toyoshima
Journal:  J Neurol       Date:  2008-05-19       Impact factor: 4.849

9.  An inherited large-scale rearrangement in SACS associated with spastic ataxia and hearing loss.

Authors:  Alessandra Terracciano; Carlo Casali; Gaetano S Grieco; Daniela Orteschi; Silvia Di Giandomenico; Laura Seminara; Roberto Di Fabio; Rosalba Carrozzo; Alessandro Simonati; Giovanni Stevanin; Marcella Zollino; Filippo M Santorelli
Journal:  Neurogenetics       Date:  2008-11-20       Impact factor: 2.660

10.  ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia.

Authors:  Sascha Vermeer; Rowdy P P Meijer; Benjamin J Pijl; Janneke Timmermans; Johannes R M Cruysberg; Maaike M Bos; Helenius J Schelhaas; Bart P C van de Warrenburg; Nine V A M Knoers; Hans Scheffer; Berry Kremer
Journal:  Neurogenetics       Date:  2008-05-09       Impact factor: 2.660
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