Literature DB >> 15985586

A phenotype without spasticity in sacsin-related ataxia.

H Shimazaki1, Y Takiyama, K Sakoe, Y Ando, I Nakano.   

Abstract

The authors describe two Japanese siblings with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) without spasticity, usually a core feature of this disorder. They had a novel homozygous missense mutation (T987C) of the SACS gene, which resulted in a phenylalanine-to-serine substitution at amino acid residue 304.

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Year:  2005        PMID： 15985586     DOI： 10.1212/01.WNL.0000166031.91514.B3

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.  A novel sacsin mutation in a Japanese woman showing clinical uniformity of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Authors:  S Okawa; M Sugawara; S Watanabe; T Imota; I Toyoshima
Journal:  J Neurol Neurosurg Psychiatry       Date:  2006-02       Impact factor: 10.154

3.  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

4.  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

Review 5.  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

6.  Sacsinopathies: sacsin-related ataxia.

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

7.  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

8.  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

9.  A novel SACS gene mutation in a Tunisian family.

Authors:  Yosr Bouhlal; Ghada El Euch-Fayeche; Fayçal Hentati; Rim Amouri
Journal:  J Mol Neurosci       Date:  2009-06-16       Impact factor: 3.444

10.  Comparative analysis and functional mapping of SACS mutations reveal novel insights into sacsin repeated architecture.

Authors:  Alessandro Romano; Alessandra Tessa; Amilcare Barca; Fabiana Fattori; Maria Fulvia de Leva; Alessandra Terracciano; Carlo Storelli; Filippo Maria Santorelli; Tiziano Verri
Journal:  Hum Mutat       Date:  2013-03       Impact factor: 4.878
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