scholarly journals Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies

Neuron ◽  
2019 ◽  
Vol 101 (4) ◽  
pp. 560-583 ◽  
Author(s):  
Matthis Synofzik ◽  
Hélène Puccio ◽  
Fanny Mochel ◽  
Ludger Schöls
Keyword(s):  
Autosomal Recessive ◽  
Cerebellar Ataxias ◽  
Molecular Therapies ◽  
Targeted Molecular Therapies ◽  
Autosomal Recessive Cerebellar Ataxias ◽  
The Way

Coenzyme Q10 deficiency; A treatable autosomal recessive cerebellar ataxias

2017 ◽  
Vol 21 ◽  
pp. e136
Author(s):  
Gül Demet Kaya Ozcora ◽  
Nazlı Basak ◽  
Mehmet Canpolat ◽  
Hamit Acer ◽  
Sefer Kumandas
Keyword(s):  
Coenzyme Q10 ◽  
Autosomal Recessive ◽  
Cerebellar Ataxias ◽  
Autosomal Recessive Cerebellar Ataxias

Ataxias

2017 ◽  
Author(s):  
Vikram G. Shakkottai
Keyword(s):  
Cerebellar Ataxia ◽  
Autosomal Recessive ◽  
Friedreich Ataxia ◽  
Specific Treatment ◽  
Specific Gene ◽  
Progressive Cerebellar Ataxia ◽  
Cerebellar Ataxias ◽  
Gene Defects ◽  
Inherited Ataxias ◽  
Autosomal Recessive Cerebellar Ataxias

Autosomal recessive cerebellar ataxias are a group of inherited neurological disorders with progressive balance and gait difficulties. In these disorders, cerebellar ataxia is often accompanied by eye movement abnormalities and peripheral nervous system involvement. A unifying mechanism for disease pathogenesis that is common to all the recessive ataxias likely does not exist. Nevertheless, some pathophysiological pathways are common to several autosomal recessive cerebellar ataxias. Specific gene defects in each disorder are summarized in the chapter. The most common recessively inherited ataxias are Friedreich ataxia and Ataxia telangiectasia. A recessive ataxia must be considered for any individual with progressive cerebellar ataxia with onset less than 30 years. The treatment is primarily supportive, but some recessive ataxias have specific treatment.

The Autosomal Recessive Cerebellar Ataxias

2012 ◽  
Vol 366 (7) ◽  
pp. 636-646 ◽  
Author(s):  
Mathieu Anheim ◽  
Christine Tranchant ◽  
Michel Koenig
Keyword(s):  
Autosomal Recessive ◽  
Cerebellar Ataxias ◽  
Autosomal Recessive Cerebellar Ataxias

Reply to: “Autosomal‐Recessive Cerebellar Ataxias With Elevated Alpha‐Fetoprotein: Uncommon Diseases, Common Biomarker”

2021 ◽  
Vol 36 (3) ◽  
pp. 789-790
Author(s):  
Mathilde Renaud ◽  
Christine Tranchant ◽  
Michel Koenig ◽  
Mathieu Anheim
Keyword(s):  
Autosomal Recessive ◽  
Alpha Fetoprotein ◽  
Cerebellar Ataxias ◽  
Autosomal Recessive Cerebellar Ataxias

scholarly journals Treatable Ataxia: a comprehensive case series study

2021 ◽  
Author(s):  
Mahmood reza Ashrafi ◽  
Elham Pourbakhtyaran ◽  
Mohammad Rohani ◽  
Bita Shalbafan ◽  
Ali Reza Tavasoli ◽  
...  
Keyword(s):  
Early Detection ◽  
Early Onset ◽  
Autosomal Recessive ◽  
Case Series ◽  
Case Series Study ◽  
Close Observation ◽  
Cerebellar Ataxias ◽  
Series Study ◽  
Autosomal Recessive Cerebellar Ataxias

Autosomal recessive cerebellar ataxias are a group of heterogeneous early-onset progressive disorders that some of them are treatable. We performed 4-year-follow up for 25 patients that considered as treatable ataxia in the literature. According to our study, patients would benefit from early detection of treatable ataxia, close observation, and follow-up.

Autosomal recessive cerebellar ataxias: the current state of affairs

2011 ◽  
Vol 48 (10) ◽  
pp. 651-659 ◽  
Author(s):  
S. Vermeer ◽  
B. P. C. van de Warrenburg ◽  
M. A. A. P. Willemsen ◽  
M. Cluitmans ◽  
H. Scheffer ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Current State ◽  
Cerebellar Ataxias ◽  
State Of Affairs ◽  
Autosomal Recessive Cerebellar Ataxias

Autosomal Recessive Cerebellar Ataxias

2021 ◽  
pp. 2465-2482
Author(s):  
Ikhlass Haj Salem ◽  
Anne Noreau ◽  
Jean-Pierre Bouchard ◽  
Patrick A. Dion ◽  
Guy A. Rouleau ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Cerebellar Ataxias ◽  
Autosomal Recessive Cerebellar Ataxias

scholarly journals Autosomal Recessive Cerebellar Ataxias With Elevated Alpha‐Fetoprotein: Uncommon Diseases, Common Biomarker

2020 ◽  
Vol 35 (12) ◽  
pp. 2139-2149
Author(s):  
Mathilde Renaud ◽  
Christine Tranchant ◽  
Michel Koenig ◽  
Mathieu Anheim
Keyword(s):  
Autosomal Recessive ◽  
Alpha Fetoprotein ◽  
Cerebellar Ataxias ◽  
Autosomal Recessive Cerebellar Ataxias
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