Ataxia

作者：Akbar Umar; Ashizawa Tetsuo^*

来源：Neurologic Clinics, 2015, 33(1): 225-+.

DOI：10.1016/j.ncl.2014.09.004

• Ataxia
• Inherited
• Sporadic
• Autosomal dominant
• Autosomal recessive
• Mitochondrial
• Diagnosis
• Treatment

Ataxia is a disorder of balance and coordination resulted from dysfunctions involving cerebellum and its afferent and efferent connections. While a variety of disorders can cause secondary ataxias, the list of genetic causes of ataxias is growing longer. Genetic abnormalities may involve mitochondrial dysfunction, oxidative stress, abnormal mechanisms of DNA repair, possible protein misfolding, and abnormalities in cytoskeletal proteins. Few ataxias are fully treatable while hope for efficacious gene therapy and pharmacotherapy is emerging. A discussion of the ataxias is presented here with brief mention of acquired ataxias, and a greater focus on inherited ataxias.

• 出版日期2015-2