Marie Cerebellar Ataxia, also known as Marie's ataxia or Friedrich's ataxia, is a rare genetic neurological disorder characterized by progressive degeneration of the nerve cells in the spinal cord and certain regions of the brain, primarily the cerebellum. The condition is named after the French neurologist Pierre Marie, who first described it in 1883, and the German physician Nikolaus Friedreich, who independently reported on the condition in 1863.
Individuals with Marie Cerebellar Ataxia typically present with symptoms such as impaired coordination and balance, muscle weakness, and difficulties with speech and swallowing. The condition is inherited in an autosomal recessive manner, meaning that an affected individual receives two copies of the defective gene (FRDA) - one from each parent, who are typically carriers of the condition without showing symptoms themselves.
This disorder results from a mutation in the FXN gene, which is responsible for the production of a protein called frataxin. In affected individuals, the mutation leads to reduced production of this protein, causing a disruption in the normal functioning of mitochondria – the energy-producing structures within cells. As a result, affected individuals experience a gradual degeneration of nerves in various parts of the body, particularly those involved in movement coordination.
Since Marie Cerebellar Ataxia is a progressive disorder, symptoms worsen over time and can lead to severe disability, with many individuals requiring assistive devices or mobility aids for daily activities. Treatment options for this disorder are limited to managing symptoms and providing supportive care, including physical and occupational therapy, speech therapy, and assistive devices. Research efforts are ongoing to develop potential disease-modifying therapies and gene therapies for Marie Cerebellar Ataxia.
