Literature DB >> 14718706

A novel mutation in SACS gene in a family from southern Italy.

C Criscuolo1, S Banfi, M Orio, P Gasparini, A Monticelli, V Scarano, F M Santorelli, A Perretti, L Santoro, G De Michele, A Filla.   

Abstract

A form of autosomal recessive spastic ataxia (ARSACS) has been described in the Charlevoix and Saguenay regions of Quebec. So far a frameshift and a nonsense mutation have been identified in the SACS gene. The authors report a new mutation (1859insC), leading to a frameshift with a premature termination of the gene product sacsin, in two sisters from consanguineous parents. The phenotype is similar to previously described patients with ARSACS.

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Year:  2004        PMID： 14718706     DOI： 10.1212/wnl.62.1.100

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


  22 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

Review 2.  [Clinical details and genetics of recessive ataxias].

Authors:  C Zühlke; F Kreuz; K Bürk
Journal:  Nervenarzt       Date:  2011-04       Impact factor: 1.214

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

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.  Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.

Authors:  M Anheim; M Fleury; B Monga; V Laugel; D Chaigne; G Rodier; E Ginglinger; C Boulay; S Courtois; N Drouot; M Fritsch; J P Delaunoy; D Stoppa-Lyonnet; C Tranchant; M Koenig
Journal:  Neurogenetics       Date:  2009-05-14       Impact factor: 2.660

6.  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

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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