Literature DB >> 14718707

Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type.

G S Grieco1, A Malandrini, G Comanducci, V Leuzzi, M Valoppi, A Tessa, S Palmeri, L Benedetti, A Pierallini, S Gambelli, A Federico, F Pierelli, E Bertini, C Casali, F M Santorelli.   

Abstract

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset familial disease with prominent myelinated fibers in the optic fundus. ARSACS is frequent in the Charlevoix-Saguenay region of Quebec but rare elsewhere. Mutations in SACS, encoding sacsin, a protein of unknown function, are associated with ARSACS. The authors identified three new SACS mutations in two Italian patients whose phenotype closely matches that of Quebec cases, but without retinal striation.

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Year:  2004        PMID： 14718707     DOI： 10.1212/01.wnl.0000104491.66816.77

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


  23 in total

1.  Sacsin-related ataxia caused by the novel nonsense mutation Arg4325X.

Authors:  Yoichi Yamamoto; Masayuki Nakamori; Kuni Konaka; Seiichi Nagano; Haruo Shimazaki; Yoshihisa Takiyama; Saburo Sakoda
Journal:  J Neurol       Date:  2006-08-29       Impact factor: 4.849

2.  A novel mutation in the SACS gene associated with a complicated form of spastic ataxia.

Authors:  Marcella Masciullo; Anna Modoni; Fabiana Fattori; Massimo Santoro; Paola S Denora; Pietro Tonali; Filippo M Santorelli; Gabriella Silvestri
Journal:  J Neurol       Date:  2008-07-11       Impact factor: 4.849

3.  Design and validation of a conformation sensitive capillary electrophoresis-based mutation scanning system and automated data analysis of the more than 15 kbp-spanning coding sequence of the SACS gene.

Authors:  Sascha Vermeer; Rowdy P P Meijer; Tom G J Hofste; Daniëlle Bodmer; Ermanno A J Bosgoed; Frans P M Cremers; Berry H P Kremer; Nine V A M Knoers; Hans Scheffer
Journal:  J Mol Diagn       Date:  2009-09-24       Impact factor: 5.568

Review 4.  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

5.  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

6.  Identification of the GTPase-activating protein DEP domain containing 1B (DEPDC1B) as a transcriptional target of Pitx2.

Authors:  Di Wu; Xiaoxi Zhu; Kevin Jimenez-Cowell; Alexander J Mold; Christopher C Sollecito; Nicholas Lombana; Meng Jiao; Qize Wei
Journal:  Exp Cell Res       Date:  2015-02-19       Impact factor: 3.905

7.  Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.

Authors:  Liena E O Elsayed; Inaam N Mohammed; Ahlam A A Hamed; Maha A Elseed; Adam Johnson; Mathilde Mairey; Hassab Elrasoul S A Mohamed; Mohamed N Idris; Mustafa A M Salih; Sarah M El-Sadig; Mahmoud E Koko; Ashraf Y O Mohamed; Laure Raymond; Marie Coutelier; Frédéric Darios; Rayan A Siddig; Ahmed K M A Ahmed; Arwa M A Babai; Hiba M O Malik; Zulfa M B M Omer; Eman O E Mohamed; Hanan B Eltahir; Nasr Aldin A Magboul; Elfatih E Bushara; Abdelrahman Elnour; Salah M Abdel Rahim; Abdelmoneim Alattaya; Mustafa I Elbashir; Muntaser E Ibrahim; Alexandra Durr; Anjon Audhya; Alexis Brice; Ammar E Ahmed; Giovanni Stevanin
Journal:  Eur J Hum Genet       Date:  2016-09-07       Impact factor: 4.246

8.  Sacsinopathies: sacsin-related ataxia.

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

9.  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

10.  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
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