Literature DB >> 17846221

Autosomal recessive spastic ataxia of Charlevoix-Saguenay: a report of MR imaging in 5 patients.

M-H Martin1, J-P Bouchard, M Sylvain, O St-Onge, S Truchon.   

Abstract

We present findings on MR imaging in 5 patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). In the literature, early atrophy of the superior vermis as well as progressive atrophy of the cerebellar hemispheres and cervical cord was described. We found linear hypointensity on T2 and T2 fluid-attenuated inversion recovery-weighted images in the pons in all of our 5 patients.

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Year:  2007        PMID： 17846221      PMCID： PMC8134385          DOI： 10.3174/ajnr.A0603

Source DB:  PubMed          Journal:  AJNR Am J Neuroradiol        ISSN： 0195-6108            Impact factor:   3.825


  3 in total

1.  ARSACS goes global.

Authors:  Christopher M Gomez
Journal:  Neurology       Date:  2004-01-13       Impact factor: 9.910

2.  Neuroimaging study in autosomal dominant cerebellar ataxia, deafness, and narcolepsy.

Authors:  A Melberg; N Dahl; J Hetta; S Valind; I Nennesmo; P O Lundberg; R Raininko
Journal:  Neurology       Date:  1999-12-10       Impact factor: 9.910

3.  Autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Authors:  J P Bouchard; A Richter; J Mathieu; D Brunet; T J Hudson; K Morgan; S B Melançon
Journal:  Neuromuscul Disord       Date:  1998-10       Impact factor: 4.296
  3 in total
  21 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.  Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).

Authors:  Martine Girard; Roxanne Larivière; David A Parfitt; Emily C Deane; Rebecca Gaudet; Nadya Nossova; Francois Blondeau; George Prenosil; Esmeralda G M Vermeulen; Michael R Duchen; Andrea Richter; Eric A Shoubridge; Kalle Gehring; R Anne McKinney; Bernard Brais; J Paul Chapple; Peter S McPherson
Journal:  Proc Natl Acad Sci U S A       Date:  2012-01-17       Impact factor: 11.205

3.  Sacs knockout mice present pathophysiological defects underlying autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Authors:  Roxanne Larivière; Rébecca Gaudet; Benoit J Gentil; Martine Girard; Talita Cristiane Conte; Sandra Minotti; Kim Leclerc-Desaulniers; Kalle Gehring; R Anne McKinney; Eric A Shoubridge; Peter S McPherson; Heather D Durham; Bernard Brais
Journal:  Hum Mol Genet       Date:  2014-09-26       Impact factor: 6.150

4.  Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)-First Report of Clinical and Imaging Features from India, and a Novel SACS Gene Duplication.

Authors:  Pankaj A Agarwal; Priti Ate-Upasani; Vedam L Ramprasad
Journal:  Mov Disord Clin Pract       Date:  2017-08-09

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

Review 6.  Ataxia.

Authors:  Tetsuo Ashizawa; Guangbin Xia
Journal:  Continuum (Minneap Minn)       Date:  2016-08

7.  Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS.

Authors:  Visou Ady; Brenda Toscano-Márquez; Moushumi Nath; Philip K Chang; Jeanette Hui; Anna Cook; François Charron; Roxanne Larivière; Bernard Brais; R Anne McKinney; Alanna J Watt
Journal:  J Physiol       Date:  2018-07-19       Impact factor: 5.182

8.  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

9.  Subtle Imaging Findings Aid the Diagnosis of Adolescent Hereditary Spastic Paraplegia and Ataxia.

Authors:  Franca Wagner; David S Titelbaum; Renate Engisch; Emily K Coskun; Jeff L Waugh
Journal:  Clin Neuroradiol       Date:  2018-01-29       Impact factor: 3.649

10.  Assessment of whole-brain white matter by DTI in autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Authors:  K K Oguz; G Haliloglu; C Temucin; R Gocmen; A C Has; K Doerschner; A Dolgun; M Alikasifoglu
Journal:  AJNR Am J Neuroradiol       Date:  2013-04-18       Impact factor: 3.825
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