Title:Current and Promising Therapies in Autosomal Recessive Ataxias
Volume: 17
Issue: 3
Author(s): Vincent Picher-Martel*Nicolas Dupre*
Affiliation:
- Department of Medicine, Faculty of Medicine, Laval University and CHU de Quebec-Laval University, Axe Neurosciences, 1401, 18th Street, Quebec, QC,Canada
- Department of Medicine, Faculty of Medicine, Laval University and CHU de Quebec-Laval University, Axe Neurosciences, 1401, 18th Street, Quebec, QC,Canada
Keywords:
Recessive ataxia, friedreich's ataxia, ataxia-telangiectasia, ataxia with vitamin E deficiency, refsum's disease, wilson's
disease, cerebrotendinous xantomatosis, niemann-pick disease type C, ataxia with oculomotor apraxia, autosomal recessive
spastic ataxia of charlevoix-saguenay.
Abstract: Background & Objective: Ataxia is clinically characterized by unsteady gait and imbalance.
Cerebellar disorders may arise from many causes such as metabolic diseases, stroke or genetic
mutations. The genetic causes are classified by mode of inheritance and include autosomal dominant,
X-linked and autosomal recessive ataxias. Many years have passed since the description of the Friedreich's
ataxia, the most common autosomal recessive ataxia, and mutations in many other genes have
now been described. The genetic mutations mostly result in the accumulation of toxic metabolites
which causes Purkinje neuron lost and eventual cerebellar dysfunction. Unfortunately, the recessive
ataxias remain a poorly known group of diseases and most of them are yet untreatable.
Conclusion: The aim of this review is to provide a comprehensive clinical profile and to review the
currently available therapies. We overview the physiopathology, neurological features and diagnostic
approach of the common recessive ataxias. The emphasis is also made on potential drugs currently or
soon-to-be in clinical trials. For instance, promising gene therapies raise the possibility of treating differently
Friedreich's ataxia, Ataxia-telangiectasia, Wilson's disease and Niemann-Pick disease in the
next few years.
