Literature DB >> 21625752

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): typical clinical and neuroimaging features in a Brazilian family.

José Luiz Pedroso1, Pedro Braga-Neto, Agessandro Abrahão, René Leandro Magalhães Rivero, Carolina Abdalla, Nitamar Abdala, Orlando Graziani Povoas Barsottini.   

Abstract

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterized by late-infantile onset spastic ataxia and other neurological features. ARSACS has a high prevalence in northeastern Quebec, Canada. Several ARSACS cases have been reported outside Canada in recent decades. This is the first report of typical clinical and neuroimaging features in a Brazilian family with probable diagnosis of ARSACS.

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Year:  2011        PMID: 21625752     DOI: 10.1590/s0004-282x2011000300004

Source DB:  PubMed          Journal:  Arq Neuropsiquiatr        ISSN: 0004-282X            Impact factor:   1.420


  4 in total

Review 1.  Discovery of Therapeutics Targeting Oxidative Stress in Autosomal Recessive Cerebellar Ataxia: A Systematic Review.

Authors:  Sze Yuen Lew; Michael Weng Lok Phang; Pit Shan Chong; Jaydeep Roy; Chi Him Poon; Wing Shan Yu; Lee Wei Lim; Kah Hui Wong
Journal:  Pharmaceuticals (Basel)       Date:  2022-06-19

Review 2.  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 3.  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

4.  Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Turkish Child.

Authors:  Faruk Incecik; Ozlem M Hergüner; Atil Bisgin
Journal:  J Pediatr Neurosci       Date:  2018 Jul-Sep
  4 in total

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