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Spastic ataxia Charlevoix-Saguenay type

Also Known As:
Autosomal recessive spastic ataxia of Charlevoix-Saguenay; Charlevoix-Saguenay spastic ataxia; Spastic ataxia of Charlevoix-Saguenay
Networked: 54 relevant articles (0 outcomes, 5 trials/studies)

Bio-Agent Context: Research Results

Experts

1. Santorelli, F M: 4 articles (12/2015 - 04/2008)
2. Brais, Bernard: 4 articles (02/2015 - 06/2011)
3. Anheim, M: 4 articles (05/2011 - 04/2008)
4. Gehring, Kalle: 3 articles (02/2015 - 06/2011)
5. McPherson, Peter S: 3 articles (02/2015 - 06/2011)
6. Berciano, José: 3 articles (01/2014 - 10/2005)
7. Amouri, Rim: 3 articles (07/2011 - 11/2009)
8. Hentati, Fayçal: 3 articles (07/2011 - 11/2009)
9. Bouhlal, Yosr: 3 articles (07/2011 - 11/2009)
10. Koenig, M: 3 articles (01/2011 - 04/2008)

Related Diseases

1. Friedreich Ataxia (Friedreich's Ataxia)
2. Ataxia (Dyssynergia)
3. Apraxias (Dyspraxia)
01/01/2011 - "We identified six families homozygous for regions containing the autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) gene, two families homozygous for the ataxia-telangiectasia gene (ATM), two families homozygous for the ataxia with oculomotor apraxia type 1 (AOA1) gene, and one family homozygous for the AOA type 2 (AOA2) gene. "
01/01/2015 - "The five most common ARCA in this cohort were Friedreich ataxia, ataxia with isolated vitamin E deficiency, ataxia with oculomotor apraxia type 2, autosomal recessive spastic ataxia of Charlevoix-Saguenay and ataxia with oculomotor apraxia type 1. We report here a large cohort of patients with genetically determined autosomal recessive ataxia and the first study of the genetic context of ARCA in Algeria. "
05/01/2011 - "Friedreich's ataxia (FRDA) is clearly the most frequent ARCA and several rarer entities have been described during the past fifteen years such as ataxia with oculomotor apraxia type 1 (AOA1) and type 2 (AOA2), ataxia with vitamin E deficiency (AVED) and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). "
02/01/2010 - "A molecular diagnosis could be established for 57 patients; 36 were affected with FRDA, seven with ataxia plus oculomotor apraxia type 2 (AOA2), four with AT, three with ataxia plus oculomotor apraxia type 1 (AOA1), three with Marinesco-Sjögren syndrome, two with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), one with ataxia with vitamin E deficiency (AVED) and one with autosomal recessive cerebellar ataxia type 2 (ARCA2). "
10/01/2005 - "Other forms are much less common, and include abetaliproteinemia, ataxia with vitamin E deficiency (AVED), ataxia with oculomotor apraxia types 1 (AOA1) and 2 (AOA2), early onset cerebellar ataxia with retained reflexes, Charlevoix-Saguenay spastic ataxia, and Joubert syndrome. "
4. Spinocerebellar Degenerations (Marinesco Sjogren Syndrome)
5. Tyrosinemias (Tyrosinemia)

Related Drugs and Biologics

1. Ataxia with vitamin E deficiency
2. Tryptophan (L-Tryptophan)
3. Thiamine (Aneurin)
4. Serotonin (5 Hydroxytryptamine)
5. Norepinephrine (Noradrenaline)
6. Methoxyhydroxyphenylglycol
7. Homovanillic Acid
8. Dopamine (Intropin)
9. Retinaldehyde (Retinal)
10. Poly(A)-Binding Protein II