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13
Mar

 

The genetic cause of a new form of ataxia

 
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The gene in question is called AFG3L2 and contains information for a protein involved in the metabolism of mitochondria, the power plants of our cells,

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Identified the genetic defect responsible for a particular genetic form of ataxia, SCA28: to announce a study financed by Telethon and published online on the site Nature Genetics Franco Taroni, researcher of Neurologico Carlo Besta “in Milan, Marco Muzi-Falconi University of Milan and colleagues. The term ataxia is derived from the greek “disorder” and indicates a disorder of motor coordination that is often also associated with incontinence, difficulty swallowing and involuntary movements of limbs, trunk, head, eyes. The portion of the brain affected is the cerebellum, the control station of all voluntary movements of our body.

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Category: MedicineTags: AFG3L2, hereditary ataxias, metabolism, mitochondria

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