Literature DB >> 34405106

Novel Mutation in SACS Gene in a Patient with Autosomal Recessive Spastic Ataxia Charlevoix-Saguenay.

Igor Petrov1.   

Abstract

Entities:  

Keywords:  autosomal recessive spastic ataxia Charlevoix‐Saguenay; genetic testing; late onset; novel mutation; sacs gene

Year:  2021        PMID： 34405106      PMCID： PMC8354083          DOI： 10.1002/mdc3.13216

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  10 in total

1.  ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF.

Authors:  J C Engert; P Bérubé; J Mercier; C Doré; P Lepage; B Ge; J P Bouchard; J Mathieu; S B Melançon; M Schalling; E S Lander; K Morgan; T J Hudson; A Richter
Journal:  Nat Genet       Date:  2000-02       Impact factor: 38.330

2.  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 3.  Autosomal recessive spastic ataxia of Charlevoix-Saguenay: an overview.

Authors:  Yosr Bouhlal; Rim Amouri; Ghada El Euch-Fayeche; Fayçal Hentati
Journal:  Parkinsonism Relat Disord       Date:  2011-03-30       Impact factor: 4.891

4.  Sacsin-related autosomal recessive ataxia without prominent retinal myelinated fibers in Japan.

Authors:  Kenju Hara; Osamu Onodera; Minoru Endo; Hiroshi Kondo; Hiroshi Shiota; Kenji Miki; Naoyuki Tanimoto; Tetsuya Kimura; Masatoyo Nishizawa
Journal:  Mov Disord       Date:  2005-03       Impact factor: 10.338

5.  Diversity of ARSACS mutations in French-Canadians.

Authors:  I Thiffault; M J Dicaire; M Tetreault; K N Huang; J Demers-Lamarche; G Bernard; A Duquette; R Larivière; K Gehring; A Montpetit; P S McPherson; A Richter; L Montermini; J Mercier; G A Mitchell; N Dupré; C Prévost; J P Bouchard; J Mathieu; B Brais
Journal:  Can J Neurol Sci       Date:  2013-01       Impact factor: 2.104

6.  Autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Authors:  J P Bouchard; A Barbeau; R Bouchard; R W Bouchard
Journal:  Can J Neurol Sci       Date:  1978-02       Impact factor: 2.104

7.  Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay.

Authors:  Antoine Duquette; Bernard Brais; Jean-Pierre Bouchard; Jean Mathieu
Journal:  Mov Disord       Date:  2013-08-02       Impact factor: 10.338

8.  Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey.

Authors:  Andrea M Richter; Riza Koksal Ozgul; Virginie C Poisson; Haluk Topaloglu
Journal:  Neurogenetics       Date:  2004-05-20       Impact factor: 2.660

9.  Novel mutation of SACS gene in a Spanish family with autosomal recessive spastic ataxia.

Authors:  Chiara Criscuolo; Francesco Saccà; Giuseppe De Michele; Pietro Mancini; Onofre Combarros; Jon Infante; Antonio Garcia; Sandro Banfi; Alessandro Filla; José Berciano
Journal:  Mov Disord       Date:  2005-10       Impact factor: 10.338

10.  Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.

Authors:  Matthis Synofzik; Anne S Soehn; Janina Gburek-Augustat; Julia Schicks; Kathrin N Karle; Rebecca Schüle; Tobias B Haack; Martin Schöning; Saskia Biskup; Sabine Rudnik-Schöneborn; Jan Senderek; Karl-Titus Hoffmann; Patrick MacLeod; Johannes Schwarz; Benjamin Bender; Stefan Krüger; Friedmar Kreuz; Peter Bauer; Ludger Schöls
Journal:  Orphanet J Rare Dis       Date:  2013-03-15       Impact factor: 4.123
  10 in total
  2 in total

Review 1.  Genetics of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) and Role of Sacsin in Neurodegeneration.

Authors:  Jaya Bagaria; Eva Bagyinszky; Seong Soo A An
Journal:  Int J Mol Sci       Date:  2022-01-04       Impact factor: 5.923

Review 2.  Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix-Saguenay to develop patient-reported outcome.

Authors:  Marjolaine Tremblay; Laura Girard-Côté; Bernard Brais; Cynthia Gagnon
Journal:  Orphanet J Rare Dis       Date:  2022-10-01       Impact factor: 4.303
  2 in total

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